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1  T-cell survival (eg, vaccination and immune deficiency).
2  to infection in 3 siblings with severe G6PD deficiency.
3 fancy and arterial calcification due to CD73 deficiency.
4 le complementing enzymes in the case of APTX deficiency.
5 pression changes in LSCs caused by Tcf1/Lef1 deficiency.
6 n reduced cell viability in response to iron deficiency.
7  family member should be screened for C1-INH deficiency.
8 ant mouse models with or without adiponectin deficiency.
9 dication use and the subsequent risk of iron deficiency.
10 ctive lysosomal turnover resulting from NPC1 deficiency.
11 ed with an increased subsequent risk of iron deficiency.
12 euroendocrine features of PWS are due to PC1 deficiency.
13  edema, phenotypes associated with vitamin A deficiency.
14 s account for the clinical features of DOCK8 deficiency.
15 etardation, chronic neutropenia, and NK cell deficiency.
16 nal degeneration was similar to that of cblC deficiency.
17 ications during both erythropoiesis and iron deficiency.
18 s associated with combined pituitary hormone deficiency.
19 the same biochemical phenotype of GDP-fucose deficiency.
20 uring the initiation of colitis with miR-223 deficiency.
21  associated with early childhood respiratory deficiency.
22 cular thrombosis despite persistent ADAMTS13 deficiency.
23 he metabolic bypass of beta-hexosaminidase A deficiency.
24 ukodystrophy caused by aspartoacylase (ASPA) deficiency.
25 chondrial biogenesis is a consequence of FXN deficiency.
26 nt fractures in absence of trauma and growth deficiency.
27 gnaling pathways are restricted by the M-ILK deficiency.
28 liminated host protection conferred by Gal-1 deficiency.
29 d individuals with autosomal recessive TIRAP deficiency.
30  investigated the phenotypic effects of JAK2 deficiency.
31 e, especially that given to those at risk of deficiency.
32 -derived DCs exhibited systematic functional deficiencies.
33 inase and microtubule-associated protein Tau deficiencies.
34  of neoplastic disease with TGFbeta receptor deficiencies.
35 ning, as knockout mutants display N-fixation deficiency (25%) and increased nodular superoxide conten
36  some mutations in HCS cause holocarboxylase deficiency, a rare metabolic disorder that can be life-t
37 cy (activity = 30%-50%), and moderate-severe deficiency (activity </=30%).
38 o 3 categories: normal (activity >50%), mild deficiency (activity = 30%-50%), and moderate-severe def
39           Previously, we observed that NKG2D deficiency affects peripheral B cell numbers.
40 eviously unsuspected mechanism by which sIgM deficiency aggravates atherosclerosis.
41               Inherited or acquired ADAMTS13 deficiency allows the unrestrained growth of microthromb
42                              In vitro, ISG15 deficiency also leads to persistently high levels of typ
43                                          Atm deficiency also markedly enhanced sensitivity to the ATR
44                                      GSTO1-1 deficiency ameliorates the inflammatory response stimula
45 nylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detec
46 nd by assessing the overlap of micronutrient deficiencies and anemia.
47 sex and results in moderate to severe mental deficiencies and decreased lifespan.
48 ets covering various stages of macronutrient deficiencies and symbiotic interactions with rhizobia an
49 These differences illuminate yield-reporting deficiencies and the value that alternative, politically
50 -/-) mice with a global MyD88, TLR7, or TLR9 deficiency and cell type-specific MyD88 deficiency to st
51  has contributed to our understanding of LOS-deficiency and compares it to studies done on Neisseria
52 h the induction of cGVHD ameliorated by BCL6 deficiency and completely suppressed by Stat3 deficiency
53 een for participants with baseline vitamin D deficiency and for secondary outcomes.
54                                           FX deficiency and GMDS deletion produce the same biochemica
55 ent in individuals with type II antithrombin deficiency and identified a new antithrombin functional
56 em that often results in bottom water oxygen deficiency and in turn promotes sediment phosphorus (P)
57 resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosi
58                                 C1 inhibitor deficiency and patients with bowel edema only were exclu
59 ce with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BC
60 uding the heart, spleen, and liver) under Cu deficiency and that subcutaneous administration of Cu to
61     To study the relationship between Merlin deficiency and tumourigenesis, we have developed an in v
62 emperatures, UV-light, drought, and nutrient deficiencies, and may contribute to tolerance to these s
63 ations observed in patients with AT, Artemis deficiency, and SAVI.
64 is particularly marked in conditions of IL-2 deficiency, and, conversely, IL-2 represses Flicr expres
65    Although the hazards associated with iron deficiency anemia (IDA) are well known, concerns about r
66 en aged 9 to 48 months with nutritional iron-deficiency anemia, ferrous sulfate compared with iron po
67  worldwide whose inadequate diet causes iron deficiency anemia.
68                                Micronutrient deficiencies are common among women in low-income and mi
69       Many efforts to prevent or treat these deficiencies are hampered by the lack of adequate, acces
70 r the T- and B-cell defects caused by LRRC8A deficiency are caused by loss of VRAC activity.
71 ssociated with succinate dehydrogenase (SDH) deficiency are characterized by high (18)F-FDG avidity.
72    Our data suggest autosomal dominant STAT4 deficiency as a novel inborn error of IL-12-dependent IF
73  survival in vitro and compensates for IL-7R deficiency, as residual ILCs are depleted in mice lackin
74                     In order to address this deficiency, ASL pH was measured in vivo in children usin
75 f human growth, and show that growth hormone deficiency associated with maternally inherited gingival
76                                      TAX1BP1 deficiency augments virus-induced activation of proapopt
77 AND We combined a model of specific antibody deficiency, B cell-specific CD79a-Cre x XBP1 (X-box bind
78 (-/-) mice did not reflect a systemic immune deficiency, because immunized IL-1R1(-/-) mice survived
79                   For SNVs, we show that MMR deficiency both increases their frequency and changes th
80 s been recognised in association with copper deficiency but has not been well characterised.
81 ortant in relation to the management of iron deficiency but should also inform dietary advice, especi
82  biochemical, and behavioral effects of 2-AG deficiency by deleting its primary synthetic enzyme, dia
83 logical and functional consequences of PLAG1 deficiency by determining testicular histology, daily sp
84 108 patients with steroid 11beta-hydroxylase deficiency CAH.
85 ronmental stressors, toxicants, and nutrient deficiencies can affect DNA in several ways.
86                                           TC deficiency can produce the hematologic and neurologic co
87                         Clinical vitamin B12 deficiency can result in megaloblastic anemia, which res
88                                      NK cell deficiency can result in severe or refractory viral infe
89                                         HO-2 deficiency caused hyperresponsive TRAM-dependent TLR4 si
90                    Regulatory T (T reg) cell deficiency causes lethal, CD4(+) T cell-driven autoimmun
91                     Complement factor 3 (C3) deficiency causes prolonged bleeding, reduced thrombus i
92                                       ATP8A2 deficiency causes severe neurodegenerative diseases.
93 r the genetic studies of abiotic stress iron deficiency chlorosis (IDC) of soybean is reported.
94 gene expression patterns under severe OXPHOS deficiency comparing several mouse models, that will dee
95  that monogenic or digenic POLR3A and POLR3C deficiencies confer increased susceptibility to severe V
96                                  Thus, ENPP1 deficiency confers an energetic disadvantage to PCs for
97 ensitive to spectrin, adducin, and nucleator deficiency, consistent with microscopy-derived models pr
98 gether, these results suggest that ribosomal deficiency contributes to impaired megakaryopoiesis in m
99 e proportion of anemia with concomitant iron deficiency (defined as an inflammation-adjusted ferritin
100 mal transition and improves endothelial Fli1 deficiency-dependent vascular disintegrity, implying its
101 .Ser267Phe in SLC10A1 are prone to vitamin D deficiency, deviated sex hormones and blood lipids.
102                             Muscle autophagy deficiency did not affect glucose clearance and exercise
103                               Although Vps34 deficiency did not affect MK polyploidisation or proplat
104                           Furthermore, CD137 deficiency did not suppress T1D development in NOD mice
105                         In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development
106 reover, it is increasingly evident that PTEN deficiency disrupts the fundamental processes of genetic
107 n, although conditions of glucagon excess or deficiency do not cause changes compatible with this vie
108  production via distinct mechanisms, as IL-4 deficiency does not prevent hyperproliferation or elevat
109               The findings suggest that CCR2 deficiency does not provide a sustained benefit and that
110                                         CCR2 deficiency does not provide sustained improvement of mus
111                 Furthermore, neuraminidase 3 deficiency drastically increased storage of GM2 in the b
112  metal toxicant uptake and essential element deficiency during specific developmental windows increas
113                              Moreover, IL-22 deficiency enhanced T cell responses to promote viral cl
114                                           F8 deficiency enhanced the survival of F5(L/L)Tfpi(+/-) mic
115                                          FXR deficiency enriched Desulfovibrionaceae, Deferribacterac
116 ant zebrafish lines, each resulting in Rbpr2 deficiency, exhibit a small eye defect, and systemic mal
117 ity and contractile responses, whereas CXCR4 deficiency favored a synthetic phenotype, the occurrence
118 patients without known risk factors for iron deficiency, gastric acid inhibitor use for >/=2 years wa
119                      Growth hormone receptor deficiency (GHRD) results in short stature, enhanced ins
120 , Arabidopsis thaliana We then show that MMR deficiency greatly increases the frequency of both small
121                                         This deficiency hampers investigations into the biology of gl
122                          Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of com
123 effecthas proved difficult to define as G6PD deficiency has multiple allelic variants with different
124                                         Iron deficiency (ID) is common in young children aged 6-36 mo
125 rted being able to quickly correct the minor deficiencies identified.
126 ts and showed that rats with genetic IL-22BP deficiency (Il22ra2(-/-)) displayed exacerbated disease
127                                         CD40 deficiency impairs this process and prevents diabetic re
128 ently attenuated BMD loss caused by estrogen deficiency, improved bone turnover, promoted a favorable
129 10 papers identified all pointed out gaps or deficiencies in allergy care provision in primary care.
130                                 Furthermore, deficiencies in beta cell glucose sensing are likely to
131                           Aging is linked to deficiencies in immune responses and increased systemic
132 singly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar
133 LMT generated cellular defects that mimicked deficiencies in mitochondrial Fe-S cluster synthesis inc
134                     However, until recently, deficiencies in our understanding of the nature of these
135 omal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that
136 ase 9 (MMP9) contributes to this process and deficiencies in the MMP9 lead to impaired healing.
137                                              Deficiencies in the PAPs resulted in perturbations of ge
138 ant isradipine plasma levels, or Cav1.3 LTCC deficiency in 6-OHDA-treated male mice.
139             The high prevalence of vitamin D deficiency in African Americans (AAs) may be a contribut
140         So far, the role of mouse Ces1/Ces1g deficiency in atherosclerosis is not elucidated.
141 these results strongly suggest that an early deficiency in beta-cell number in infants with CF may co
142  length decreases continuously, indicating a deficiency in C-strand fill-in synthesis.
143 ns including Hodgkin's lymphoma because of a deficiency in CD70, the ligand of CD27.
144 anscriptional activation in response to zinc deficiency in cells, suggesting a conserved pathway of l
145 ible deletion of CLEC-2 or platelet-specific deficiency in CLEC-2 are protected against DVT.
146               To investigate the role of BH4 deficiency in disease phenotypes, 12-month-old Fabry mic
147 ) T cells is also prevented by BCL6 or Stat3 deficiency in donor CD4(+) T cells, with the induction o
148 eficiency and completely suppressed by Stat3 deficiency in donor CD4(+) T cells.
149                                      25(OH)D deficiency in early childhood is associated with increas
150                                         CTCF deficiency in embryonic neurons is lethal in mice, but m
151                                              Deficiency in endothelial autophagy also increased TNF-a
152                In hypercholesterolemic mice, deficiency in endothelial autophagy increased plaque bur
153 (eg, the calculated prevalence of the severe deficiency in Europeans would be: 12.9 in 10(6)).
154 mice) blocked the protective effect of SphK2 deficiency in fibrosis.
155  (FASN) suppresses toxicity induced by PINK1 deficiency in flies, mouse cells, patient-derived fibrob
156                            We find that EZH2 deficiency in FOXP3(+) T cells results in lethal multior
157 ne a type I interferonopathy due to DNase II deficiency in humans.
158                                              Deficiency in its homolog ARID1B is synthetically lethal
159            Our data demonstrate that Gsalpha deficiency in JG cells of adult mice results in kidney i
160 g; (ii) transcriptomic consequences of PLAG1 deficiency in knock-out and heterozygous mice compared t
161                                         HOIP deficiency in liver parenchymal cells triggered tumorige
162 ing: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm
163              Such defects result in protease deficiency in lysosomes and impaired lysosomal proteolys
164                          In parallel, Nlrp12 deficiency in mice caused increased basal colonic inflam
165                                      Genetic deficiency in mice resulted in a partially penetrant emb
166                                        Bmal1 deficiency in monocytes and macrophages resulted in an i
167                      Here, we show that Rev1-deficiency in mouse embryo fibroblasts or mouse liver ti
168                                              Deficiency in pGP3 alone, which is regulated by pGP4, la
169 careers as drivers of modern economies, this deficiency in preparation for STEM careers threatens the
170 ng-term clinical implications of vitamin B-6 deficiency in stable outpatient RTRs.In a longitudinal c
171                               Moreover, CCR2 deficiency in T cells promoted a program inducing the ac
172   Interestingly, NOD/SCID mice, which have a deficiency in T, B, and NK cells, showed minimal disease
173                         We report that Ophn1 deficiency in the mouse generated severe cognitive impai
174 munity, we examined the impact of granzyme A deficiency in the NOD mouse model of autoimmune diabetes
175 , we found that drug treatments or a genetic deficiency in the thioredoxin system that increase level
176 ciency remains the most common micronutrient deficiency in the world.
177                                    The MERTK deficiency in this individual results from a nonsense va
178                                         LGI1 deficiency incurs a >50% down-regulation of the expressi
179 e mutant does not up- and down-regulate iron deficiency-induced and -repressed genes.
180 RNS are a nongenetic driving force for Brca2-deficiency-induced pancreatic tumors.
181 t ALS3 cooperates with LPR1/2 to regulate Pi deficiency-induced remodeling of root architecture by mo
182                      Here we find that Cdc42 deficiency inhibits the Kras (G12D) -induced lung alveol
183 ease inhibitor used for the treatment of AAT deficiency, inhibits IBMIR and cytokine-induced inflamma
184 asizes the complex relationship between iron deficiency, iron treatment, and malaria infection in end
185            BRINDA findings confirm that iron deficiency is a common and consistent risk factor for an
186 ric and neurological disorders in which RELN deficiency is a common feature.
187                             Thus, human MDA5 deficiency is a novel inborn error of innate and/or intr
188                                Thus, DNAJC12 deficiency is a preventable and treatable cause of intel
189                                 Antithrombin deficiency is associated with increased risk of venous t
190                            We found that p62 deficiency is associated with inhibited complex I mitoch
191     Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plas
192      Hereditary angioedema with C1 inhibitor deficiency is characterized by recurrent, unpredictable
193       The observed neurodegeneration in Gclc deficiency is of more chronic rather than acute nature a
194                     Here we find that YTHDF2 deficiency is partially permissive in mice and results i
195 GWAS results together suggest that vitamin D deficiency is potentially causal of sero-negative RA and
196                                          B12 deficiency is the leading cause of megaloblastic anemia,
197     Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder in huma
198     Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red
199 is reverse activity, but the reason for this deficiency is unclear.
200 ophils is the hallmark of leukocyte adhesion deficiency (LAD) syndrome in humans, characterized by im
201 ells, but it is not fully understood how WRN deficiency leads directly to telomere dysfunction.
202 ress responses and thermogenesis, and how O2 deficiency leads to metabolic reprograming in cancer.
203                                         Nek7 deficiency leads to telomere aberrations, long-lasting g
204                                        CD11d deficiency led to a marked reduction in lipid deposition
205                                         Pdx1 deficiency led to decreased Atf5 transcript, and primary
206                                        TPL-2 deficiency led to exacerbated HDM-induced airway allergy
207                          We found that Runx3 deficiency limited clonal expansion and impaired upregul
208 ximate 20% increase in the odds of vitamin D deficiency (&lt;/=20 ng/mL) [odds ratio (95% CI): 1.19 (1.0
209 evels in pregnancy and birth weight, but B12 deficiency (&lt;148 pmol/L) was associated with a higher ri
210 (age, anthropometric measures, micronutrient deficiencies, malaria, and inflammation) and household-l
211                                 However, ATM deficiency markedly increases the proportion of chromoso
212 r transport protein, as well as other copper-deficiency markers are down-regulated by copper.
213                           Correction of MCP1 deficiency may thus be a new therapeutic approach to SMA
214                        Mismatch repair (MMR) deficiency (MMRD) and microsatellite instability (MSI) a
215                                        These deficiencies of mitochondrial biogenesis in FRDA cells a
216 n, primarily due to numerical and functional deficiencies of Treg cells in the periphery.
217                                              Deficiency of alphaMbeta2 suppressed Mvarphi egress from
218                                 In contrast, deficiency of alphaXbeta2 abrogated intraperitoneal recr
219                                 Heterozygous deficiency of APOC3 has been shown to protect against co
220 leading to combined respiratory-chain enzyme deficiency of complexes I, III, and IV.
221 ermis of psoriatic skin leading to localized deficiency of cortisol.
222 SmmhcCreER(T2)- or TaglnCre-driven)-specific deficiency of CXCR4 in an apolipoprotein E-deficient mou
223                                              Deficiency of factor X (F10) in humans is a rare bleedin
224                          It is caused by the deficiency of glucose-6-phosphatase, an enzyme which cat
225  the wild-type protein partially rescued the deficiency of GPI-anchored proteins.
226                                              Deficiency of Kir2.1 channels results in elevated blood
227 ings were observed in mice with DMH-specific deficiency of melanocortin MC4R receptors, which are kno
228 , which is central for mTEC differentiation, deficiency of p53 in TECs altered multiple functional mo
229   Spinal muscular atrophy (SMA) is caused by deficiency of SMN protein, which is crucial for spliceos
230                                      Genetic deficiency of the CIB1 gene enhances MPTP-induced neurot
231 ls in wild-type mice and in mice with global deficiency of the Cyp27b1 gene encoding 25-hydroxyvitami
232                      Conversely, conditional deficiency of the master regulator Bcl6 in CD4(+) T cell
233                   In Drosophila nephrocytes, deficiency of the Pals1 ortholog caused alterations in s
234                          Results showed that deficiency of the Tgr5 gene in mice alleviated fasting-i
235                     It is caused by a severe deficiency of the ubiquitously expressed Survival Motor
236                  CAMSA addresses the current deficiency of tools for automated comparison and analysi
237                                 By contrast, deficiency of TUT4 and TUT7 does not alter gene expressi
238                                      Because deficiency of vascular endothelial growth factor (VEGF)
239                            Here we show that deficiency of Wiskott-Aldrich syndrome protein (WASp), w
240         We previously reported that in mice, deficiency of Zdhhc13, a member of the PAT family, cause
241 meric mice, we show that the impact of NKG2D deficiency on B1a cell development is cell intrinsic.
242 ls often experience, the effect of glutamine deficiency on cellular responses to DNA damage and chemo
243 te a potentially devastating impact of Disc1 deficiency on neural circuit function, partly due to Kv1
244 ls, macrophages, and fibroblasts, but IL-1R2 deficiency on neutrophils increased the IL-1-induced res
245                There was no effect of IL-1R2 deficiency on the cell-autonomous cytokine response to I
246 nt with a proproliferative effect of a GATA1 deficiency on this lineage.
247 hether L1 expression simply highlights piRNA deficiency or actually drives the germ-cell demise.
248                     Correspondingly, sestrin deficiency or simultaneous inhibition of all three MAPKs
249 na) boron efflux transporter displayed boron deficiency phenotypes.
250 iants in a gene implicated in primary immune deficiency, PLCG2, and a negative regulator of inflammat
251                          Significantly, TLR4 deficiency preserved the expression of CD47 (don't eat m
252                                         Akt2 deficiency profoundly inhibited the development of liver
253                      Both PXR activation and deficiency promote hepatic triglyceride accumulation, a
254                                        BCL9L deficiency promoted tolerance of chromosome missegregati
255                                        SIRT3 deficiency promotes lung fibrosis by augmenting alveolar
256 ed levels of C16-ceramide, showed that CerS6-deficiency protected against the development of colitis.
257 ue to environmental insult or innate genetic deficiency, protein folding environments of the mitochon
258 , health outcomes resulting from nutritional deficiencies, quality of life, mortality, and harms of s
259                           Conversely, TDP-43 deficiency reduced the population of processing intermed
260           This suggests that alpha-actinin-3 deficiency reduces muscle performance at baseline, but a
261                              Whether ANGPTL3 deficiency reduces risk of coronary artery disease (CAD)
262 with fetal abnormalities and cerebral folate deficiency-related developmental disorders.
263  Despite its known detrimental effects, iron deficiency remains the most common micronutrient deficie
264                                         P2X7 deficiency resolved plaque inflammation by inhibition of
265 were not or only slightly affected by Cox4i2 deficiency, respectively.
266 romoter analysis revealed the presence of Zn-deficiency-response elements (ZDREs) in a number of the
267                            TEC-specific Irf4 deficiency resulted in a significantly reduced thymic Tr
268                                        Ch25h deficiency results in cholesterol-dependent reduced mito
269                                     25(OH)D3 deficiency results in failure in bone formation and skel
270      The 3 individuals with complete ANGPTL3 deficiency showed no evidence of coronary atheroscleroti
271 olated renal tubules revealed that this Xpr1 deficiency significantly affected Pi efflux.
272 ving the replication stress induced by FANCM deficiency, simultaneous depletion of BLM and FANCM, or
273                                    Vitamin A deficiency strongly predicted the risk of incident tuber
274 sly reported that CD137 (encoded by Tnfrsf9) deficiency suppressed type 1 diabetes (T1D) progression
275 hepcidin suppression by erythropoietin, iron deficiency, thalassemia, and hemochromatosis.
276          Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle
277 TLR9 deficiency and cell type-specific MyD88 deficiency to study the functional correlation between M
278                           The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling chi
279   At the molecular levels, hepatic Foxo1/3/4 deficiency triggered a significant increase in the expre
280 bling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 i
281               Combined TIRAP and anti-LTA Ab deficiencies underlie staphylococcal disease in this pat
282      Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neo
283  and a potential tool for fighting vitamin A deficiency (VAD) in developing countries.
284 ic patients with stage 3-4 CKD and vitamin D deficiency, vitamin D supplementation may improve vascul
285                                         TLR4 deficiency was also associated with reduced inflammation
286                                       Stard7 deficiency was associated with altered mitochondrial siz
287                                  Vitamin B-6 deficiency was defined as PLP <20 nmol/L, and insufficie
288               At 8 months, the risk for iron deficiency was reduced in the delayed clamping group in
289 he Fabry mice receiving SRT but not ERT, BH4 deficiency was restored, concomitant with ameliorated ca
290  In a murine model of lymphoid-specific EZH2 deficiency we found that EZH2 was required for proper de
291 arious serum sources with defined complement deficiencies, we demonstrate that, under physiologic con
292                              To address this deficiency, we present RolyPoly, a regression-based poly
293    To understand and ultimately correct this deficiency, we quantified flavor-associated chemicals in
294 Blood samples of 3 patients with severe G6PD deficiency were analyzed for G6PD enzyme activity, cellu
295             cTFH cells in patients with LRBA deficiency were biased toward a TH1-like cell phenotype,
296 SIRT5(-/-) mice, like humans with Complex II deficiency, were found to have mild lactic acidosis.
297 us treatment and germline replication repair deficiency, which improved management of patients and fa
298 icipated outcome of homologous recombination deficiency, which triggers cell lethality and, we propos
299  a monogenic cause of common variable immune deficiency with features of immune dysregulation.
300 identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormon

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