1 metrics were defined for genome assembly and
mutation analysis.
2 CF newborn screening algorithms involve DNA
mutation analysis.
3 al and neuroradiological studies, and SLC6A3
mutation analysis.
4 ells were sorted, cultured and harvested for
mutation analysis.
5 table NF1 germline mutation underwent SPRED1
mutation analysis.
6 d BMP1-cleavage site of DMP1 was verified by
mutation analysis.
7 iption-translation (TNT) assays and promoter
mutation analysis.
8 ious inclusion of pseudogene variants during
mutation analysis.
9 ng a rapid molecular diagnosis of CS without
mutation analysis.
10 sponse element (ARE), which was confirmed by
mutation analysis.
11 (UM:H389) was used for linkage, mapping, and
mutation analysis.
12 ugh Sp1 sites, as determined by deletion and
mutation analysis.
13 n, electrophoretic mobility shift assay, and
mutation analysis.
14 nstrated for performing spatial TGGE for DNA
mutation analysis.
15 ybridization, reverse transcription-PCR, and
mutation analysis.
16 tal liver metastases (CLM) in the era of RAS
mutation analysis.
17 anscriptase-PCR, loss of heterozygosity, and
mutation analysis.
18 A custom Ion AmpliSeq panel was used for
mutation analysis.
19 e information such as selection pressure and
mutation analysis.
20 100% concordant with commercial germline RB1
mutation analysis.
21 ockout/reporter strategy suitable for mosaic
mutation analysis.
22 uction of spine-like structures, as shown by
mutation analysis.
23 lected for phosphoinositide-3-kinase pathway
mutation analysis.
24 umor specimens available for mitotic rate or
mutation analysis.
25 e percentage of blasts nor the role of GATA1
mutation analysis.
26 es yielded 12 "priority" candidate genes for
mutation analysis (
2010).
27 Mutation analysis also led to the identification of aber
28 Point
mutation analysis and an electrophoretic mobility shift
29 Through
mutation analysis and binding assays, we show that Gle1
30 promise to have a huge impact on diagnostic
mutation analysis and candidate gene testing.
31 us is observed and should be considered when
mutation analysis and cascade screening is used in the e
32 17 promoter deletion constructs coupled with
mutation analysis and ChIP studies identified HIF-1alpha
33 We performed TP53
mutation analysis and genomewide analysis of loss of het
34 ues in rhodopsin and cone visual pigments by
mutation analysis and identified two critical residues (
35 Discordant findings between DNA
mutation analysis and immunohistochemical analysis were
36 the entire genome, which greatly simplifies
mutation analysis and increases the possibilities of mul
37 By combining point
mutation analysis and misexpression experiments, we demo
38 analysis functions, including visualization,
mutation analysis and multiple RNAs structure comparison
39 Through charge reversal
mutation analysis and mutant cycle analysis, we obtained
40 The results of the
mutation analysis and phenotypic rescue experiments indi
41 R5 expression based on promoter deletion and
mutation analysis and siRNA-mediated gene silencing resu
42 are suitable for subtyping of NSCLC and EGFR
mutation analysis and that the use of immunohistochemist
43 on of all patients with XLP1, thus directing
mutation analysis and treatment.
44 Diagnosis is confirmed by
mutation analysis and/or enzyme activity measurement in
45 h as pathogen detection, RNA quantification,
mutation analysis,
and (recently) next generation DNA se
46 side-chain modeling such as protein design,
mutation analysis,
and docking simulation.
47 icroscopy EM of 409 end plates (EPs), and by
mutation analysis,
and expression studies of the mutants
48 Chromatin immunoprecipitation assays,
mutation analysis,
and luciferase reporter assays reveal
49 neurocognitive indices with clinical status,
mutation analysis,
and urea synthetic capacity in 19 wom
50 ular diagnostics, particularly kinase domain
mutation analysis,
as well as early review of allograft
51 Tissue samples underwent
mutation analysis (
automated DNA sequencing).
52 he autozygous intervals were prioritized for
mutation analysis by correlation of their expression wit
53 though contacts predicted using a correlated
mutation analysis can provide some powerful restrictions
54 atrices contain rich information relevant to
mutation analysis compared to well-established substitut
55 Mutation analysis confirmed that JZTx-27 bound to S3-4 l
56 Compensatory-
mutation analysis confirmed that there was a correlation
57 Deletional
mutation analysis confirmed that this locus is essential
58 Mutation analysis confirms that RPL26 inhibits miR-27a b
59 We investigated whether sensitive
mutation analysis could identify other poor-risk subgrou
60 Prevalence data, homology data,
mutation analysis data, and protein modeling data sugges
61 rylation sites of the IGF-1R, and subsequent
mutation analysis demonstrated clear effects on IGF-1R s
62 Mutation analysis demonstrated that 5' promoter deletion
63 Mutation analysis demonstrated that a conserved leucine
64 Within the amino terminal extension point
mutation analysis demonstrated that both a GAG and GPG s
65 Point
mutation analysis demonstrated that both Cys147 and Cys1
66 Mutation analysis demonstrated that of predominant impor
67 Mutation analysis demonstrated that TSA response was med
68 Deletion
mutation analysis demonstrated the importance in heat sh
69 Mutation analysis demonstrates that both the phosphatase
70 Hprt
mutation analysis demonstrates that Nfkb1(-/-) cells acc
71 hway was assessed using integrated data from
mutation analysis (
direct sequencing), DNA copy number c
72 Deletion and point
mutation analysis disclosed that SdpI binding to GlyRbet
73 Mutation analysis excluded the GUCA1A and GUCA1B genes a
74 nments (MSA) because the power of correlated
mutation analysis falls as the size of the MSA decreases
75 th both the traditional phage assay and gene
mutation analysis for detection of resistance to rifampi
76 ad centrally confirmed, localized GISTs with
mutation analysis for KIT and PDGFRA performed centrally
77 ovide examples of high-resolution truncation
mutation analysis for multiplex parsing of CREs.
78 ht the clinical/prognostic utility of serial
mutation analysis for NDM in HC-RES/INT ET, including th
79 If either MSI or IHC was abnormal, complete
mutation analysis for the mismatch repair genes was perf
80 Clinical
mutation analysis for the NF1 gene has been problematic;
81 This comprehensive
mutation analysis found that 93% of all patients with CM
82 Molecular mechanistic dissection with
mutation analysis found that ARA55 could enhance TR4 ace
83 medicine approach called gene expression and
mutation analysis (
GEMA) to identify BRCA- and DNA-PK-de
84 Mutation analysis,
gene silencing and transgenic complem
85 By
mutation analysis,
gene silencing and transgenic overexp
86 We provide new evidence that 3D
mutation analysis has unique advantages.
87 Mutation analysis identified a 6-nucleotide element corr
88 Mutation analysis identified a broad spectrum of somatic
89 Mutation analysis identified a novel trinucleotide delet
90 Sensitive
mutation analysis identified a poor-risk subgroup (15.5%
91 Site-directed
mutation analysis identified Arg(205), which is spatiall
92 Co-
mutation analysis identified co-occurring driver combina
93 Subsequent SOX2
mutation analysis identified de novo truncating mutation
94 Mutation analysis identified five frameshift mutations i
95 Point
mutation analysis identified five key amino acids, N(153
96 nsgene correction of the mouse phenotype and
mutation analysis identified the causative gene as encod
97 Deletion
mutation analysis identified the LSF-responsive regions
98 Mutation analysis identified two GGCX mutations in the a
99 Mutation analysis identifies Thr374 as a major PKA site
100 Mutation analysis,
immunoprecipitation, and GST pulldown
101 inical outcome, we performed a comprehensive
mutation analysis in 293 patients with myeloid neoplasm
102 To address this hypothesis, germline SDHB-D
mutation analysis in 375 PTEN mutation-negative CS/CS-li
103 stone genes, we conducted a high-throughput
mutation analysis in a cohort of consecutively recruited
104 mbined with dual-color hybridization, allows
mutation analysis in a shorter time span and is more sui
105 uencing, that has been the gold standard for
mutation analysis in cancer since the 1970s, suffers fro
106 Mutation analysis in classic sporadic AHC patients and i
107 Using deletion
mutation analysis in combination with biochemical and mo
108 We performed
mutation analysis in genes encoding receptor members of
109 zes the clinical utility of performing RAD21
mutation analysis in patients presenting with atypical f
110 ESR1
mutation analysis in plasma after progression after prio
111 Here we describe an assay, MAP-C (
Mutation Analysis in Pools by Chromosome conformation ca
112 eexamination, immunohistochemistry, and IDH2
mutation analysis in reclassified cases supported the va
113 Mutation analysis in single-cell genomes is prone to art
114 s a firm foundation for standardized somatic-
mutation analysis in single-cell genomics.
115 This study describes
mutation analysis in six further OFD1 families.
116 Mutation analysis in six out of six patients with SMDK d
117 ailed mapping in extended TAPVR kindreds and
mutation analysis in TAPVR patients that implicate the P
118 Mutation analysis in the region of homozygosity identifi
119 Further
mutation analysis in this rare disorder could illuminate
120 Mutation analysis in thyroid nodule fine needle aspirati
121 ectal cancer (CRC), and 140 referred for APC
mutation analysis in which a germline mutation was not i
122 and 40% (15 of 38) of papillary RCC, whereas
mutation analysis (
in 39 RCC cell lines and primary tumo
123 Deletion and
mutation analysis indicated existence of individual Cdc4
124 Mutation analysis indicated that 2 aa residues, Ser(304)
125 Deletion and
mutation analysis indicated that both a weak TR and a GA
126 Mutation analysis indicated that GSK-3beta kinase activi
127 Mutation analysis indicated that the nuclear localizatio
128 -1176 bp) in the ROBO4 promoter (3 kb), and
mutation analysis indicated that this site was partially
129 Mutation analysis indicated the TSA response is mediated
130 Mutation analysis indicates that hydrophobic residues (T
131 Point
mutation analysis indicates that pore assembly is exquis
132 Mutation analysis indicates that similar amino acid resi
133 ythmogenic right ventricular cardiomyopathy,
mutation analysis is being applied.
134 JAK2
mutation analysis is now a formal component of diagnosti
135 nohistochemistry, but molecular testing with
mutation analysis is paramount for selection of appropri
136 endable on its own under all scenarios where
mutation analysis is required.
137 Mutation analysis led to identification of three novel m
138 Mutation analysis led to the conclusion that pauA3B2 par
139 Therefore, the laser capture/
mutation analysis method is sensitive and facilitates th
140 er relapse rate and improved survival, CEBPA
mutation analysis needs to be incorporated into initial
141 We collected results of a CDH1
mutation analysis of 578 individuals from 499 families t
142 Here, we have carried out
mutation analysis of 62 bladder tumors and 33 bladder tu
143 Mutation analysis of 66 probands identified 4 variants i
144 ortant role for SATB2 in palate development,
mutation analysis of 70 unrelated patients with CPO did
145 ene for dilated cardiomyopathy (DCM) through
mutation analysis of a cohort of familial or idiopathic
146 Mutation analysis of a gene in this interval that encode
147 In Y1 cells,
mutation analysis of a putative ZF5 motif located within
148 minoadipic semialdehyde/creatinine ratio and
mutation analysis of ALDH7A1 (antiquitin) in investigati
149 A higher resolution deletion and
mutation analysis of AR2 revealed two regions between -1
150 Mutation analysis of AtMCP2d revealed that cleavage afte
151 Sensitive KIT D816V
mutation analysis of blood has been proposed to guide bo
152 al investigations, including a sensitive KIT
mutation analysis of blood leucocytes or measurement of
153 These data, coupled with deletion and
mutation analysis of both the Egr-1 and NAG-1 gene promo
154 Our gene amplification and somatic
mutation analysis of breast primary tumors provides a co
155 Within the critical region,
mutation analysis of candidate genes LRP2BP, CYP4V2, and
156 uspicion of hereditary EB pruriginosa led to
mutation analysis of COL7A1, which confirmed a novel, he
157 Mutation analysis of conserved sequences revealed a 15.9
158 PTEN
mutation analysis of CS patients and sporadic colorectal
159 The results of
mutation analysis of CydX suggest that few individual am
160 The results from deletion and
mutation analysis of CYP2D6 promoter activity identified
161 Reciprocal
mutation analysis of Escherichia coli CPS (eCPS), creati
162 Mutation analysis of FeLV Env demonstrated that amino ac
163 uropathology summary) for all, and performed
mutation analysis of FLNA in nine patients.
164 imization of the assay, we apply it for KRAS
mutation analysis of four human cancer cell lines.
165 We have performed an automated
mutation analysis of HIV Type 1 (HIV-1) protease and rev
166 Mutation analysis of Hsp90 Lys(294) shows that its acety
167 In this work, a
mutation analysis of human cancer revealed subtle but im
168 Mutation analysis of IFRD1 in additional patients with s
169 Systematic deletion and
mutation analysis of intron sequences established that t
170 Mutation analysis of known tyrosine residues of FGFR1 re
171 Mutation analysis of Lasp-1 demonstrates that its SH3 do
172 Mutation analysis of limited numbers of genes has indica
173 We have further applied WGA to ADPKD
mutation analysis of low DNA-yield specimens, successful
174 for clinical diagnosis because it allows the
mutation analysis of multiple patients to be performed w
175 In the present study, we report a
mutation analysis of MYH6 in patients with a wide spectr
176 The
mutation analysis of MYH6 was performed in DNA samples f
177 tructural magnetic resonance neurography and
mutation analysis of NF2, SMARCB1, and LZTR1.
178 We performed
mutation analysis of NPHP4 in 146 unrelated patients wit
179 linical investigation, direct sequencing and
mutation analysis of PRRT2 were performed on patients fr
180 We carried out
mutation analysis of RAB27A, LYST, and AP3B1 in patients
181 Deletion/
mutation analysis of reporter constructs was used to dem
182 se findings, together with our structure and
mutation analysis of selected Flo11A domains, provide a
183 Mutation analysis of SIRT6 Cys144, which lies in its phy
184 Mutation analysis of Sox10 coding sequences was negative
185 Mutation analysis of the AhR promoter identified one NF-
186 Here, we report on
mutation analysis of the ATF4 mRNA which revealed that s
187 ng the CHN1 region on chromosome 2q31.1, and
mutation analysis of the CHN1 gene, which encodes the Ra
188 Mutation analysis of the cII transgene in AFB(1)-exposed
189 In this study, we performed
mutation analysis of the coding and conserved regions of
190 Mutation analysis of the cyclin A2 promoter mapped the c
191 Mutation analysis of the DACTYLIN gene, suspected to be
192 Mutation analysis of the encoded TGIF gene for MYP2 auto
193 Mutation analysis of the glucosaminyl (N-acetyl) transfe
194 scribe a detailed clinical, pathological and
mutation analysis of the HDDD2 kindred.
195 has recently been suggested-on the basis of
mutation analysis of the identified BBS2, BBS4, and BBS6
196 Mutation analysis of the known BBS genes in BBS patients
197 Kras2
mutation analysis of the lung tumors revealed that tumor
198 Mutation analysis of the Parkin gene in the 174 multiple
199 Deletion and
mutation analysis of the PKCalpha promoter fused to the
200 Here, through random
mutation analysis of the Potato Potexvirus X (PVX) silen
201 Mutation analysis of the promoter and chromatin immunopr
202 ng motif in its promoter, as demonstrated by
mutation analysis of the promoter, EMSA, and ChIP.
203 s article reports the positional cloning and
mutation analysis of the rat PKD gene, which revealed a
204 Deletion and
mutation analysis of the txnip promoter identified a fun
205 Deletion and
mutation analysis of the VEGF gene promoter identified a
206 grown in three-dimensional culture and that
mutation analysis of these residues (T457A/S459A) or F45
207 sceptibility locus on 1q22, although initial
mutation analysis of this gene has not identified any sc
208 whom 72 were HIV(+), and performed extended
mutation analysis on an additional 89 tumors.
209 methods to detect such losses have relied on
mutation analysis or deletion of the gene.
210 recorded, plasma phenotype analyzed, and VWF
mutation analysis performed in all index cases (ICs).
211 If these data are confirmed,
mutation analysis rather than tissue sampling may prove
212 ered clinical deletion analysis and promoter-
mutation analysis,
respectively.
213 Mutation analysis resulted in the identification of a to
214 Mutation analysis resulted in the identification of muta
215 atin immunoprecipitation as well as deletion/
mutation analysis reveal that selenocysteine tRNA transc
216 Structural modeling and
mutation analysis reveal that, by constituting a steric
217 Mutation analysis revealed >/=1 mutations in 57% of pati
218 Mutation analysis revealed a cav-1 binding motif in TLR4
219 Mutation analysis revealed a different homozygous mutati
220 Subsequent
mutation analysis revealed a novel missense mutation, wh
221 Deletion
mutation analysis revealed a putative polarization domai
222 Paired RGP/VGP
mutation analysis revealed a trend toward discordance in
223 Mutation analysis revealed direct binding of USP18 to th
224 ith its target, maltose-binding protein, and
mutation analysis revealed dominant contributions of Tyr
225 Whereas
mutation analysis revealed no missense substitutions, ex
226 Mutation analysis revealed six distinct missense mutatio
227 Further molecular and single
mutation analysis revealed that a valine (V) residue at
228 Point
mutation analysis revealed that A30, V33, W38, and E39 o
229 Mutation analysis revealed that lysine 250 was a crucial
230 Further deletion/
mutation analysis revealed that multiple transcription f
231 Deletion
mutation analysis revealed that Nrf3 repression of NQO1
232 nteraction of miR-142 with the SIRT1 3'-UTR,
mutation analysis revealed that only the miR-142-5p targ
233 DNA
mutation analysis revealed that the glutamate metabotrop
234 Further
mutation analysis revealed that the proximal E-box (E3)
235 Mutation analysis revealed that these two patients harbo
236 Mutation analysis revealed the importance of conserved p
237 Furthermore,
mutation analysis revealed the three nucleotides from -2
238 Point
mutation analysis reveals that leucine at position 83 is
239 is negative, a false-negative result of the
mutation analysis should be considered.
240 teria for PV, ET, and PMF is warranted; JAK2
mutation analysis should be listed as a major criterion
241 Moreover, extended
mutation analysis showed homozygous somatic mutations in
242 IGHV
mutation analysis showed that all FL-B-LBL pairs harbore
243 Deletion
mutation analysis showed that GIT1(SHD) is required for
244 Mutation analysis showed that inactivation of key genes
245 Moreover,
mutation analysis showed that MAGP-2 does not stimulate
246 Mutation analysis showed that MAPKAPK2 phosphorylated 14
247 Mutation analysis showed that repression was dependent o
248 However, combinatorial
mutation analysis showed that the 1,000-fold induction i
249 Additionally,
mutation analysis showed that the 40-bp intervening sequ
250 Mutation analysis showed that the nucleophilic side chai
251 urthermore, PKCzeta phosphorylates ERK5, and
mutation analysis showed that the preferred site is S486
252 Intriguingly, our
mutation analysis showed the presence of activation muta
253 Mutation analysis shows that only four of the eight PS a
254 A and must be taken into account in any FEN1
mutation analysis studies.
255 Mutation analysis suggests that the clone became dominan
256 We used
mutation analysis suitable for identification of both do
257 reased histone acetylation, and reporter and
mutation analysis support the concept that RORgamma regu
258 Subclonal point
mutation analysis supports a similar model, although a f
259 Mutation analysis targeted to a 34 Mb domain flanked by
260 Here, we (i) establish by
mutation analysis that the 72-nt intracistronic SLV imme
261 Furthermore, we show, by NRE
mutation analysis,
that interaction of these proteins wi
262 From truncation
mutation analysis,
the capacity for XAB2 to promote HR c
263 Mutation analysis through in vitro cell expression studi
264 We performed a comprehensive
mutation analysis to evaluate the impact of 14 MF-associ
265 le-stranded DNA, protein docking on DNA, and
mutation analysis to identify the amino acids involved i
266 mendations on the frequency of kinase domain
mutation analysis to improve patient clinical care.
267 g test to define probable PCD cases and gene
mutation analysis to make a definitive diagnosis of PCD
268 We have used map-based cloning and
mutation analysis to study the recognition of Peronospor
269 Mutation analysis used genomic DNA extracted from the dr
270 Mutation analysis using gene targeting to create null mu
271 We performed PMS2
mutation analysis using long-range polymerase chain reac
272 In contrast,
mutation analysis using Sanger sequencing of PB and seru
273 A miniaturized system for DNA
mutation analysis,
utilizing temperature gradient gel el
274 KIT and PDGFRA
mutation analysis was done in 27 pediatric GISTs.
275 Mutation analysis was performed after sequencing the ent
276 Mutation analysis was performed by amplification of exon
277 Standardized hotspot
mutation analysis was performed in 2,000 patients, using
278 Here, CD37
mutation analysis was performed in a cohort of 137 prima
279 FLG
mutation analysis was performed on 1890 of the children.
280 BRAF V600E
mutation analysis was performed using allele-specific po
281 activation by UVB in HFK, promoter deletion/
mutation analysis was performed.
282 EGFR
mutation analysis was possible in 107 (90%) of the 119 p
283 EGFR
mutation analysis was possible in 91% (164 of 181) of pa
284 ble in 107 (90%) of the 119 patients in whom
mutation analysis was requested.
285 Mutation analysis was utilized to examine the specific r
286 Moreover, by
mutation analysis we found that the ability of Oct-2 to
287 suggested it might be suitable for such rare
mutation analysis,
we carried out next-generation sequen
288 Using deletion and
mutation analysis,
we define motifs required for enhance
289 Through a domain
mutation analysis,
we demonstrate a distinct dependence
290 Upon
mutation analysis,
we detected multiple MOGS genotypes i
291 Using a comprehensive
mutation analysis,
we found that E6-AP catalyzes the syn
292 tion), and 5' regulatory region deletion and
mutation analysis,
we found that two of these E-boxes ar
293 whole-exome resequencing and high-throughput
mutation analysis,
we identified recessive biallelic mut
294 n fibroblasts and data on disease course and
mutation analysis were available.
295 Next-generation sequencing and
mutation analysis were performed on 24 genes related to
296 ectroretinography, and the results of MMACHC
mutation analysis were reviewed retrospectively.
297 and the cost of Sanger sequencing complicate
mutation analysis,
which can aid diagnostics of ADPKD.
298 antitative protein detection as well as gene
mutation analysis with applications in next-generation c
299 Point
mutation analysis within the allosteric region revealed
300 The 'Unknown
Mutation Analysis (
XMAn)' database is a compilation of H