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1            Whole-exome sequencing revealed a homozygous 2 bp deletion, n.c.G623DEL-TC (p.V208VfsX20),
2 s mouse mutant ebouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that trunc
3 nian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual
4                           The mutation was a homozygous A > G mutation in exon 12 (amino acid 567) of
5             However, rarely individuals with homozygous absence of SMN1 and only three to four SMN2 c
6 rowth in p53 wild-type NSCLC harboring Arg72 homozygous alleles (p53-72R) through disrupting interact
7 th the sickle cell trait (10/218 [4.6%]) and homozygous alpha+thalassemia (8/216 [3.7%]) were signifi
8                                         Rare homozygous and compound-heterozygous nonsense (c.1213C >
9 thresholds were only slightly diminished for homozygous and for multiple HLA targets, considering the
10 g (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may repre
11 00 and 94% with a single base resolution for homozygous and heterozygous samples, respectively.
12                                        Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA
13                            Of these, 14 were homozygous and truncating in GRM7, STX1A, CCAR2, EEF1D,
14 al respiration in patient fibroblasts with a homozygous ANKZF1 R585Q mutation, and an inability of AN
15  small number of older individuals that were homozygous at an immunologically relevant genetic locus.
16                In the first experiment, male homozygous B6-Taar1(tm1(NLSLacZ)Blt) (Taar1 knockout) an
17                  Surprisingly, we found that homozygous but not heterozygous rare variants in genes a
18 of fibroblasts from one of the patients with homozygous C-terminal truncation of GLI1 demonstrated th
19 exome sequencing analysis identified a novel homozygous c.100 G > A change in IFT43 segregating with
20 ce-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry a
21 21+1G>T in a subject of Italian ancestry and homozygous c.322-10G>A in affected sibling pairs from tw
22 ole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function
23                                              Homozygous CALR(del/del) mice developed extreme thromboc
24                                              Homozygous Cdk10-knockout mice died postnatally with sev
25                                   For 95 MHC homozygous cell lines we assembled, de novo, a set of hi
26 reduced replication fork progression in some homozygous cells following DNA replication stress.
27 was 20.6% in heterozygous cells and 41.3% in homozygous cells.
28                   Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a
29             Neurofibroma number increased in homozygous CNP-hEGFR mice versus heterozygous littermate
30       pex1-3 conferred embryo lethality when homozygous, confirming that PEX1, like several other Ara
31 and DAT-Cnr2 cKO heterozygous but not in the homozygous DAT-Cnr2 cKO mice.
32 th respect to the gene can all reproduce the homozygous data.
33   Whole-genome sequencing (WGS) identified a homozygous deep intronic mutation, c.254-649T > G, predi
34 emi-deficient (Erg (cEC-Het) ) and inducible homozygous deficient mice (Erg (iEC-KO) ), in a SMAD3-de
35 s/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 (del/del)) was later i
36                                              Homozygous deletion of ASF1A is seen in 10%-15% of certa
37                             Mice harboring a homozygous deletion of Cyp24a1 (BVE(Cyp24a1-null)) exhib
38                                              Homozygous deletion of Ets2 in p53 mutant mice resulted
39 naling and ADPKD cell proliferation in vitro Homozygous deletion of ILK in renal collecting ducts (CD
40                                 In contrast, homozygous deletion of Sirt1 triggers cellular apoptotic
41                                              Homozygous deletion of the orthologous enhancer region i
42 nctional connectivity.SIGNIFICANCE STATEMENT Homozygous deletion of the Pten gene in neuronal subpopu
43 PR/Cas9, we created a transgenic line with a homozygous deletion of TpnC41C and compared its phenotyp
44 showing signatures of positive selection for homozygous deletions and identify candidate tumour suppr
45                                              Homozygous deletions are rare in cancers and often targe
46                              These recurrent homozygous deletions occur either over tumour suppressor
47                                              Homozygous deletions of chromosome 9p21 are known to tar
48 n cancer types and systematically screen for homozygous deletions, aiming to identify rare tumour sup
49 s 96 genomic regions recurrently targeted by homozygous deletions.
50 was seen with correctors and potentiators in homozygous DeltaF508 cells, increased chloride conductan
51 two copies of the transgene [RIPCre;KD-mTOR (Homozygous)] develop glucose intolerance due to a defect
52  the human disease genes into a pool of 4653 homozygous diploid yeast deletion mutants with unique ba
53                                  Relative to homozygous diploids, the presence of multiple homologs o
54       Mice with liver-specific hemizygous or homozygous disruption of Ppargc1a (Ppargc1a(f/+)Alb-cre(
55 ical trials that offer access to CCR5Delta32 homozygous donors, if available.
56  are able to create diploid strains that are homozygous double-deletion mutants.
57                                              Homozygous DSP (desmoplakin) and JUP (junction protein p
58 l and primary myogenesis proceed normally in homozygous dyW-/- embryos.
59 cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene wi
60                                              Homozygous ETAA1-deficient adult mice were otherwise nor
61 ionally, SNP alleles in NOTCH1 and RARB were homozygous exclusively in the bilateral cases, suggestin
62 itor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an
63                                              Homozygous familial hypercholesterolaemia is a genetic d
64 nts being treated with darunavir, or who had homozygous familial hypercholesterolaemia or any conditi
65 ncluded patients aged 12 years or older with homozygous familial hypercholesterolaemia who were on st
66 n to reduce LDL cholesterol in patients with homozygous familial hypercholesterolaemia, with or witho
67 ve used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to
68 osuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT022
69  can be used either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal musc
70 ry care institution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable co
71 arization may develop in children because of homozygous familial hypercholesterolemia or other underl
72              Heterozygous (FGFR3(ACH/+)) and homozygous (FGFR3(ACH/ACH)) mice expressing human FGFR3(
73 the probands, 14 had a clinical diagnosis of homozygous FH and two of heterozygous FH.
74 heterozygous fiber bundles, but increased in homozygous fiber bundles compared to wildtype mice.
75 additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ cal
76 r results were seen in mouse caudate nucleus homozygous for APOE epsilon4 via targeted replacement.
77 on; and targeted replacement transgenic mice homozygous for APOE epsilon4.
78            It is concluded that only animals homozygous for asparagine at codon 146 succumb to scrapi
79 al after ICB compared with patients who were homozygous for at least one HLA locus.
80 ences, Cvi-0 x Col-0 hybrid progeny that are homozygous for both Cvi-0 HISN6A and Col-0 HISN6B do not
81 f the patients were heterozygous and 4% were homozygous for CFHR3,1Delta We did not detect an associa
82 nd preserves body mass compared with HD mice homozygous for CK2alpha'.
83 based on perinatal lethal thrombosis in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient fo
84 atients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR in an open-label study.
85  12 years and older with cystic fibrosis and homozygous for F508del-CFTR, but it has not been assesse
86 atients with cystic fibrosis aged 6-11 years homozygous for F508del-CFTR.
87 ged 6-11 years with cystic fibrosis who were homozygous for F508del-CFTR.
88 atients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR.
89  aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis transmembrane con
90  carriers, and 2 of 3 African patients being homozygous for HLA-B*53:01, is approximately 0.00002.
91  = 0.01) compared to infants born to mothers homozygous for IgG3-R435.
92                            The patients were homozygous for p.V181SfsX8, p.L194P, and p.G98R mutation
93  individuals are two times more likely to be homozygous for rare very deleterious mutations present i
94 age, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement ope
95 either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutations, with p.(T
96 for PEX c.2578C>T, did not show AEI and were homozygous for the 3' UTR variant.
97  expression in the brains of APP/PS1-21 mice homozygous for the APOE-epsilon4 or APOE-epsilon3 allele
98           Prior studies have shown that mice homozygous for the Aspa nonsense mutation Nur7 also deve
99 ult European Americans were studied: a group homozygous for the C allele (52 individuals with BD and
100 ort and RA patients from the Nijmegen cohort homozygous for the C allele (p = 0.0141 and p = 0.0314 r
101      We sequenced the genome of an orangutan homozygous for the ENC, and we focused our analysis on t
102 fibrosis who were aged 12 years or older and homozygous for the F508del-CFTR mutation.
103                                     Patients homozygous for the G allele of rs28365143 had greater re
104                                     Patients homozygous for the G allele responded significantly bett
105 ditory function and balance behavior in mice homozygous for the harmonin mutation Ush1c c.216G > A fo
106  = 0.02) compared to infants born to mothers homozygous for the IgG3-R435 allele.
107                                       Plants homozygous for the iput1 loss-of-function mutation were
108 vels were significantly lower in individuals homozygous for the lead (rs7692387) risk variant.
109 efective protein N-glycosylation, and humans homozygous for the minor allele at the lead SLC39A8 vari
110                            Two patients were homozygous for the missense variant p.Gly131Glu, whereas
111                         We show that mutants homozygous for the mutation are viable and express a sta
112                                         Mice homozygous for the mutation showed loss of LMOD1 protein
113 gration only in vascular smooth muscle cells homozygous for the nonrisk allele.
114                                         Mice homozygous for the patient variant (Copb2R254C/R254C) ap
115 tion exhibited no abnormalities, but a child homozygous for the premature termination codon displayed
116 the bulked DNA sample of seven F2:3 families homozygous for the pss1 allele and (2) the pen1-1 mutant
117 an be infected with M. tuberculosis Two MCMs homozygous for the relatively common M1 MHC haplotype we
118 s those that were wildtype, heterozygous, or homozygous for the TSLPrs1898671 single-nucleotide polym
119  dysfunction and PBMC obtained from subjects homozygous for the TT genotype of the rs11237379/NDUFC2
120 tivation was confirmed in livers of patients homozygous for the Z allele, with severe liver disease r
121 238 cases, 209 and 29 being heterozygous and homozygous for this antigen, respectively.
122  the Exome Aggregation Consortium (ExAC) was homozygous for this mutation.
123 re virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the clo
124 ncreased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice.
125 codon in PI3-kinase p110delta (PIK3CD) and a homozygous frame shift mutation in SKAP (KNSTRN), both a
126 cing analysis in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202As
127                            The patient had a homozygous frameshift deletion in IFNGR2, which encodes
128  with complete PAI-1 deficiency because of a homozygous frameshift mutation in SERPINE-1.
129                                      A novel homozygous frameshift mutation in the gene encoding for
130 (two families); two siblings shared the same homozygous frameshift mutation, whereas one individual w
131                            We identified two homozygous frameshift mutations and a homozygous nonsens
132 osol in the heart of knockin mice carrying a homozygous G115S substitution in Sco1, which in humans c
133 llocated 48 caged populations initiated with homozygous GA and WT adults to four dietary treatments c
134                           Supplementation of homozygous Gatm mutants with exogenous creatine ameliora
135 were lower in the group with heterozygous or homozygous gene deletions than in those with no deletion
136  independent shRNA essentiality profiles and homozygous gene deletions, and recapitulate mutant-speci
137                               Paradoxically, homozygous genetic deficiency of PAI-1 is associated wit
138 cluding two donors with the rare ARMS2/HTRA1 homozygous genotype.
139 Three TTR mutations, Glu89Lys, Gly47Arg, and homozygous Gly6Ser, not previously described, were assoc
140 ment were described: Glu89Lys, Gly47Arg, and homozygous Gly6Ser.
141 r behavioral alertness performance than both homozygous groups.
142                           Using B cells from homozygous HAQ carriers, we found, surprisingly, that HA
143  from the 1000 Genomes Project we found that homozygous HAQ individuals account for approximately 16.
144 y 2.8% of Europeans whereas Africans have no homozygous HAQ individuals.
145                                            A homozygous HLA target does not trigger a twice higher XM
146 fferent genotypes (homozygous i(k) K1 versus homozygous i(i) k1).
147 iated by CHS siRNAs but different genotypes (homozygous i(k) K1 versus homozygous i(i) k1).
148 e encoding thrombopoietin (THPO): THPO R99W, homozygous in affected children in 2 families, and THPO
149 cted children in 2 families, and THPO R157X, homozygous in the affected child in the third family.
150 ness estimation unusable, we forced all loci homozygous, in a process we refer to as "forced homozygo
151                 Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q
152 ere we identified 153 heterozygous and three homozygous individuals among 3,130 genotyped subjects.
153                                          All homozygous individuals had persistent hypercholanemia (P
154  with the early onset of AD-type dementia in homozygous individuals, whereas it has a protective effe
155 cal examinations and exome sequencing in the homozygous individuals.
156 The banking of human leukocyte antigen (HLA)-homozygous-induced pluripotent stem cells (iPSCs) is con
157 phy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as t
158 te clonal HEK293 (Hrd1.KI) cells harboring a homozygous insertion of a small tandem affinity tag knoc
159 ific rescue construct, we have here isolated homozygous iput1 mutants.
160                                          The homozygous K108E mutation of interferon regulatory facto
161                                              Homozygous knockin mice with a nonsense mutation in Mypn
162  formation, whereas intestine-specific Sirt1 homozygous knockout mice have reduced development of col
163                             Furthermore, the homozygous-knockout animals have reduced adult intestina
164 t of Myo10 is semi-lethal, with over half of homozygous KO embryos exhibiting exencephaly, a severe d
165 e relative contributions of heterozygous and homozygous loci-that is, dominance.
166 nce to cytarabine treatment in vivo, whereas homozygous loss delayed leukemia formation.
167                                          Its homozygous loss is tolerated in seemingly healthy indivi
168 arget for breast tumors with heterozygous or homozygous loss of PTPN23.
169                                              Homozygous loss of the gene survival of motor neuron 1 (
170 HD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, reca
171 velopmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.
172                                We identified homozygous loss-of-function mutations in the gene encodi
173  more likely to result in offspring carrying homozygous loss-of-function mutations.
174  phenotype of our patients segregated with a homozygous loss-of-function sequence variant, causing th
175 g intravenous injection in the tail veins of homozygous M83 transgenic (M83(+/+)) mice, robust alphaS
176 ygous mpk6 embryos have defects only in mpk6 homozygous maternal plants, but not in wild-type or hete
177 roexcitatory changes were more pronounced in homozygous mice than in heterozygotes, consistent with t
178     mEC layer II neurons of heterozygous and homozygous mice were hyperexcitable and generated long-l
179 d aberrant collagen fibers in tibiae of seal homozygous mice.
180  weeks of age, the time of seizure onset for homozygous mice.
181                  Islets from RIPCre;KD-mTOR (Homozygous) mice showed reduced mTORC1 and mTORC2 signal
182                       Additional analysis of homozygous Mirta22 knockout mice, in which no alteration
183 wo affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G
184              Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in
185                       We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5.
186           Sickle cell disease results from a homozygous missense mutation in the beta-globin gene tha
187      We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhib
188              Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3
189 ies, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R2
190 e extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of
191     We enrolled classic BS patients carrying homozygous missense mutations with well-described functi
192 g whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and
193 hildren from two unrelated families carrying homozygous missense variants in SUFU.
194                                              Homozygous MLL4 enzyme-dead KI (Mll4(KI/KI)) mice are em
195                                      We find homozygous Mllt10 knockout mutants (Mllt10-KO) exhibit m
196 t embryonic day (E) 14.5 was not affected by homozygous Mof deletion despite dramatic loss of global
197  MPK1 were severely dwarfed and sterile, and homozygous mpk1 seeds from heterozygous parents were def
198                              Heterozygous or homozygous mpk6 embryos have defects only in mpk6 homozy
199 6 mutant plants completely failed to produce homozygous mpk6 seeds.
200                              Adult zebrafish homozygous mutant for disc1 show aberrant behavioural re
201                 Using two lines of zebrafish homozygous mutant for disc1, we investigated behaviour a
202  our knowledge, the largest resource of hemi/homozygous mutant mES cells to date and is available to
203                 As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations a
204                                              Homozygous mutant mice carrying this mutation developed
205 ene dosage-dependent growth restriction, and homozygous mutants exhibit upper GU defects at a microdi
206 mitted via both male and female gametes, but homozygous mutants were never recovered.
207 /neonatal lethality with rapid resorption of homozygous mutants, hampering additional studies.
208 We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoiet
209                            We found the same homozygous mutation in an unrelated consanguineous patie
210 sh sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated pro
211                                  Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpo
212               Our studies identified a novel homozygous mutation in the ciliary protein IFT43 as the
213  In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) wh
214 Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS.
215   Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a dupli
216                     Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families res
217                                We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu
218                                              Homozygous mutations in the aromatic l-amino acid decarb
219 ed by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuro
220 heterozygous mutations in normal samples and homozygous mutations in tumor samples.
221  report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b
222 d result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN exp
223 next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calc
224 In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635del
225  and mice heterozygous (MYH9(+/E1841K) ) and homozygous (MYH9(E1841K/E1841K) ) for the mutation in ea
226               Ex vivo-studied platelets from homozygous nonrisk allele carriers displayed enhanced in
227 ed two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated pr
228                                            A homozygous nonsense mutation was identified in exon 1 of
229 upled to whole exome sequencing identified a homozygous nucleotide substitution (c.565G>T) introducin
230 ssential for eukaryotic DNA replication, and homozygous null mutations of GINS component-encoding gen
231 ort and detected 773 HMZ deletion calls (567 homozygous or 206 hemizygous) with an estimated sensitiv
232           Patients with cblC deficiency were homozygous or compound heterozygotes for mutations in th
233                In 60 families, we identified homozygous or compound heterozygous DNA variants in a si
234 midase activity in fibroblasts from patients homozygous or compound heterozygous for a combination of
235 e an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutatio
236  histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and r
237  inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function var
238 is pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65.
239  42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) nonsynonymous or sp
240                     Mice with liver-specific homozygous or heterozygous Arid1a loss were resistant to
241                 Then brain neurons from mice homozygous or heterozygous for the Tau (Mapt) null allel
242 ere engrafted with bone marrow obtained from homozygous or heterozygous Tet2 knockout mice had larger
243 the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations.
244                                              Homozygous Otud6b knockout mice were subviable, smaller
245                             Individuals with homozygous p.Ser267Phe in SLC10A1 are prone to vitamin D
246         We identified eight individuals with homozygous p.Ser267Phe mutation in SLC10A1 and followed
247                             FER rs4957796 TT-homozygous patients were compared with C-allele carriers
248                               Thirty p.C282Y homozygous patients were randomly allocated to PPI (pant
249                            Here we show that homozygous PIRF mouse livers are readily repopulated wit
250 PKD cyst-derived cells with heterozygous and homozygous PKD1 mutation exhibited morphological and fun
251  coronary heart disease; we identified APOC3 homozygous pLoF carriers in our cohort.
252                         The patient with the homozygous PNPO variant had a low cerebrospinal fluid py
253            Whole-exome sequencing revealed a homozygous premature stop codon mutation in the gene enc
254 on in haploinsufficiency profiling (HIP) and homozygous profiling (HOP) screens.
255                                 By contrast, homozygous Ptch1 ablation decreased proliferation and br
256 d myofibrils isolated from young hetero- and homozygous R349P desmin knock-in mice, which carry the o
257 mpared with wild-type mice, heterozygous and homozygous R607H knockin mice displayed incomplete dRTA
258 arrays/CytoScan HD arrays allowed mapping of homozygous regions of the genome.
259 nhanced UBAC2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce ov
260 sterase 5 inhibitor sildenafil compared with homozygous risk allele carriers.
261                                              Homozygous S999A mice exhibited low body weight, reduced
262  screened a pool of more than 3700 confirmed homozygous SALK T-DNA insertion lines for visible defect
263                   Heterozygous (Scn8a(D/+)), homozygous (Scn8a(D/D))), and WT (Scn8a(+/+)) littermate
264         If insecticides do not reliably kill homozygous sensitive genotypes, it is likely that sequen
265                Heterozygous mutations within homozygous sequences descended from a recent common ance
266                                              Homozygous shha mutants developed normally; however, shh
267           Human healthy (wild-type (WT)) and homozygous sickle (SS) red blood cells (RBCs) express a
268                  All 3 patients included had homozygous sickle cell disease.
269              Using a novel approach based on homozygous single nucleotide polymorphisms, we identifie
270                                              Homozygous SMN1 loss causes spinal muscular atrophy (SMA
271  whole-genome sequencing identified the same homozygous SRD5A3 c.57G>A, p.(Trp19Ter) variant as the u
272  interictal beta/gamma power is augmented in homozygous stargazer (stg/stg) but not homozygous totter
273 l EEG displays augmented beta/gamma power in homozygous stargazer (stg/stg) mice bearing a presynapti
274 pected within the kindred and not found in a homozygous state in 300 Bedouin controls.
275 er variants that lead to disease only in the homozygous state.
276  both loci identified by linkage analysis: a homozygous stop codon in PI3-kinase p110delta (PIK3CD) a
277 nerated from nasal brushings from one W1282X homozygous subject.
278 ion of PSCs derived from patients carrying a homozygous surfactant mutation (SFTPB(121ins2)) restores
279 cticide effectiveness (their ability to kill homozygous susceptible mosquitoes) is high and exposure
280 PSSV can thus differentiate heterozygous and homozygous SVs in each sample, enabling the identificati
281 utation in Tubb4a (p.Ala302Thr) was found in homozygous taiep samples.
282                                              Homozygous tau knockout (Mapt(-/-)) mice develop age-dep
283                                              Homozygous Tg-TBK1 mice had 7.6% fewer RGCs than hemizyg
284  a presynaptic AMPA receptor defect, but not homozygous tottering (tg/tg) mice with a P/Q type calciu
285 ed in homozygous stargazer (stg/stg) but not homozygous tottering (tg/tg) mice.
286                                         Four homozygous transgenic lines (T4) expressing the mutant 1
287  MYCN-driven neuroblastoma growth in TH-MYCN homozygous transgenic mice and MYCN gene-amplified neuro
288                                  We describe homozygous truncating mutations in MYPN in 2 unrelated f
289           Here we report three families with homozygous truncating mutations in TBC1D23 who display m
290 ily with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose
291  Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c.
292 ing and discovered a potentially pathogenic, homozygous variant, c.240C > G (p.Phe80Leu).
293 d HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified.
294 mapping and whole-exome sequencing, we found homozygous variants in myosin light chain kinase (MYLK)
295  or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC i
296 a complex inheritance of TH, we predict that homozygous variants in WNT7A and SMARCA4 are necessary f
297 c restoration of Edn3 expression rescued the homozygous white mutant phenotype.
298 pressed solely in B-cells in the presence of homozygous wild-type p53 it leads to significantly incre
299      The hybrid mimics are almost completely homozygous with chromosome segments from each parent.
300 s men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women.

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