1 CF newborn screening algorithms involve DNA
mutation analysis.
2 tal liver metastases (CLM) in the era of RAS
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 e information such as selection pressure and
mutation analysis.
7 d BMP1-cleavage site of DMP1 was verified by
mutation analysis.
8 iption-translation (TNT) assays and promoter
mutation analysis.
9 ious inclusion of pseudogene variants during
mutation analysis.
10 ng a rapid molecular diagnosis of CS without
mutation analysis.
11 sponse element (ARE), which was confirmed by
mutation analysis.
12 (UM:H389) was used for linkage, mapping, and
mutation analysis.
13 ugh Sp1 sites, as determined by deletion and
mutation analysis.
14 n, electrophoretic mobility shift assay, and
mutation analysis.
15 nstrated for performing spatial TGGE for DNA
mutation analysis.
16 ybridization, reverse transcription-PCR, and
mutation analysis.
17 anscriptase-PCR, loss of heterozygosity, and
mutation analysis.
18 es and subjected them to PTEN expression and
mutation analysis.
19 ockout/reporter strategy suitable for mosaic
mutation analysis.
20 uction of spine-like structures, as shown by
mutation analysis.
21 lected for phosphoinositide-3-kinase pathway
mutation analysis.
22 umor specimens available for mitotic rate or
mutation analysis.
23 e percentage of blasts nor the role of GATA1
mutation analysis.
24 es yielded 12 "priority" candidate genes for
mutation analysis (
2010).
25 Mutation analysis also led to the identification of aber
26 Point
mutation analysis and an electrophoretic mobility shift
27 Through
mutation analysis and binding assays, we show that Gle1
28 promise to have a huge impact on diagnostic
mutation analysis and candidate gene testing.
29 us is observed and should be considered when
mutation analysis and cascade screening is used in the e
30 17 promoter deletion constructs coupled with
mutation analysis and ChIP studies identified HIF-1alpha
31 We performed TP53
mutation analysis and genomewide analysis of loss of het
32 ues in rhodopsin and cone visual pigments by
mutation analysis and identified two critical residues (
33 Discordant findings between DNA
mutation analysis and immunohistochemical analysis were
34 the entire genome, which greatly simplifies
mutation analysis and increases the possibilities of mul
35 By combining point
mutation analysis and misexpression experiments, we demo
36 analysis functions, including visualization,
mutation analysis and multiple RNAs structure comparison
37 Through charge reversal
mutation analysis and mutant cycle analysis, we obtained
38 The results of the
mutation analysis and phenotypic rescue experiments indi
39 R5 expression based on promoter deletion and
mutation analysis and siRNA-mediated gene silencing resu
40 are suitable for subtyping of NSCLC and EGFR
mutation analysis and that the use of immunohistochemist
41 The results of
mutation analysis and transfection studies demonstrated
42 on of all patients with XLP1, thus directing
mutation analysis and treatment.
43 Diagnosis is confirmed by
mutation analysis and/or enzyme activity measurement in
44 h as pathogen detection, RNA quantification,
mutation analysis,
and (recently) next generation DNA se
45 side-chain modeling such as protein design,
mutation analysis,
and docking simulation.
46 icroscopy EM of 409 end plates (EPs), and by
mutation analysis,
and expression studies of the mutants
47 Chromatin immunoprecipitation assays,
mutation analysis,
and luciferase reporter assays reveal
48 neurocognitive indices with clinical status,
mutation analysis,
and urea synthetic capacity in 19 wom
49 ular diagnostics, particularly kinase domain
mutation analysis,
as well as early review of allograft
50 Tissue samples underwent
mutation analysis (
automated DNA sequencing).
51 he autozygous intervals were prioritized for
mutation analysis by correlation of their expression wit
52 though contacts predicted using a correlated
mutation analysis can provide some powerful restrictions
53 atrices contain rich information relevant to
mutation analysis compared to well-established substitut
54 Mutation analysis confirmed that JZTx-27 bound to S3-4 l
55 Compensatory-
mutation analysis confirmed that there was a correlation
56 Deletional
mutation analysis confirmed that this locus is essential
57 Mutation analysis confirms that RPL26 inhibits miR-27a b
58 We investigated whether sensitive
mutation analysis could identify other poor-risk subgrou
59 rylation sites of the IGF-1R, and subsequent
mutation analysis demonstrated clear effects on IGF-1R s
60 Mutation analysis demonstrated that 5' promoter deletion
61 Mutation analysis demonstrated that a conserved leucine
62 Within the amino terminal extension point
mutation analysis demonstrated that both a GAG and GPG s
63 Point
mutation analysis demonstrated that both Cys147 and Cys1
64 Mutation analysis demonstrated that of predominant impor
65 Deletion and point
mutation analysis demonstrated that the tyrosine residue
66 Mutation analysis demonstrated that TSA response was med
67 Deletion
mutation analysis demonstrated the importance in heat sh
68 Mutation analysis demonstrates that both the phosphatase
69 Hprt
mutation analysis demonstrates that Nfkb1(-/-) cells acc
70 hway was assessed using integrated data from
mutation analysis (
direct sequencing), DNA copy number c
71 Deletion and point
mutation analysis disclosed that SdpI binding to GlyRbet
72 Mutation analysis excluded the GUCA1A and GUCA1B genes a
73 nments (MSA) because the power of correlated
mutation analysis falls as the size of the MSA decreases
74 th both the traditional phage assay and gene
mutation analysis for detection of resistance to rifampi
75 ad centrally confirmed, localized GISTs with
mutation analysis for KIT and PDGFRA performed centrally
76 ovide examples of high-resolution truncation
mutation analysis for multiplex parsing of CREs.
77 If either MSI or IHC was abnormal, complete
mutation analysis for the mismatch repair genes was perf
78 Clinical
mutation analysis for the NF1 gene has been problematic;
79 This comprehensive
mutation analysis found that 93% of all patients with CM
80 Molecular mechanistic dissection with
mutation analysis found that ARA55 could enhance TR4 ace
81 medicine approach called gene expression and
mutation analysis (
GEMA) to identify BRCA- and DNA-PK-de
82 Mutation analysis,
gene silencing and transgenic complem
83 By
mutation analysis,
gene silencing and transgenic overexp
84 We provide new evidence that 3D
mutation analysis has unique advantages.
85 Mutation analysis identified a 6-nucleotide element corr
86 Mutation analysis identified a broad spectrum of somatic
87 Mutation analysis identified a novel trinucleotide delet
88 Sensitive
mutation analysis identified a poor-risk subgroup (15.5%
89 Site-directed
mutation analysis identified Arg(205), which is spatiall
90 Co-
mutation analysis identified co-occurring driver combina
91 Subsequent SOX2
mutation analysis identified de novo truncating mutation
92 Mutation analysis identified five frameshift mutations i
93 Point
mutation analysis identified five key amino acids, N(153
94 nsgene correction of the mouse phenotype and
mutation analysis identified the causative gene as encod
95 Deletion
mutation analysis identified the LSF-responsive regions
96 Mutation analysis identified two GGCX mutations in the a
97 Mutation analysis identifies Thr374 as a major PKA site
98 Mutation analysis,
immunoprecipitation, and GST pulldown
99 inical outcome, we performed a comprehensive
mutation analysis in 293 patients with myeloid neoplasm
100 To address this hypothesis, germline SDHB-D
mutation analysis in 375 PTEN mutation-negative CS/CS-li
101 stone genes, we conducted a high-throughput
mutation analysis in a cohort of consecutively recruited
102 mbined with dual-color hybridization, allows
mutation analysis in a shorter time span and is more sui
103 uencing, that has been the gold standard for
mutation analysis in cancer since the 1970s, suffers fro
104 Mutation analysis in classic sporadic AHC patients and i
105 Using deletion
mutation analysis in combination with biochemical and mo
106 We performed
mutation analysis in genes encoding receptor members of
107 zes the clinical utility of performing RAD21
mutation analysis in patients presenting with atypical f
108 ESR1
mutation analysis in plasma after progression after prio
109 eexamination, immunohistochemistry, and IDH2
mutation analysis in reclassified cases supported the va
110 Mutation analysis in single-cell genomes is prone to art
111 s a firm foundation for standardized somatic-
mutation analysis in single-cell genomics.
112 This study describes
mutation analysis in six further OFD1 families.
113 Mutation analysis in six out of six patients with SMDK d
114 ailed mapping in extended TAPVR kindreds and
mutation analysis in TAPVR patients that implicate the P
115 Mutation analysis in the region of homozygosity identifi
116 Further
mutation analysis in this rare disorder could illuminate
117 Mutation analysis in thyroid nodule fine needle aspirati
118 ssor locus, prompted us to evaluate SHPRH by
mutation analysis in tumor cell lines.
119 ectal cancer (CRC), and 140 referred for APC
mutation analysis in which a germline mutation was not i
120 and 40% (15 of 38) of papillary RCC, whereas
mutation analysis (
in 39 RCC cell lines and primary tumo
121 Deletion and
mutation analysis indicated existence of individual Cdc4
122 Mutation analysis indicated that 2 aa residues, Ser(304)
123 Deletion and
mutation analysis indicated that both a weak TR and a GA
124 Mutation analysis indicated that GSK-3beta kinase activi
125 Serial deletion
mutation analysis indicated that the N-terminal region,
126 Mutation analysis indicated that the nuclear localizatio
127 -1176 bp) in the ROBO4 promoter (3 kb), and
mutation analysis indicated that this site was partially
128 Mutation analysis indicated the TSA response is mediated
129 Mutation analysis indicates that a 17-amino acid sequenc
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 uropathology summary) for all, and performed
mutation analysis of FLNA in nine patients.
163 imization of the assay, we apply it for KRAS
mutation analysis of four human cancer cell lines.
164 We have performed an automated
mutation analysis of HIV Type 1 (HIV-1) protease and rev
165 Mutation analysis of Hsp90 Lys(294) shows that its acety
166 In this work, a
mutation analysis of human cancer revealed subtle but im
167 Mutation analysis of IFRD1 in additional patients with s
168 Systematic deletion and
mutation analysis of intron sequences established that t
169 Mutation analysis of known tyrosine residues of FGFR1 re
170 Mutation analysis of Lasp-1 demonstrates that its SH3 do
171 Mutation analysis of limited numbers of genes has indica
172 We have further applied WGA to ADPKD
mutation analysis of low DNA-yield specimens, successful
173 Single-strand conformation polymorphism and
mutation analysis of microdissected tumor DNA revealed s
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 Mutation analysis of SIRT6 Cys144, which lies in its phy
183 Mutation analysis of Sox10 coding sequences was negative
184 Mutation analysis of the AhR promoter identified one NF-
185 Here, we report on
mutation analysis of the ATF4 mRNA which revealed that s
186 ng the CHN1 region on chromosome 2q31.1, and
mutation analysis of the CHN1 gene, which encodes the Ra
187 Mutation analysis of the cII transgene in AFB(1)-exposed
188 In this study, we performed
mutation analysis of the coding and conserved regions of
189 Furthermore,
mutation analysis of the COX-1 promoter suggests that TS
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 Deletion and
mutation analysis of the p65 promoter indicated that the
199 Mutation analysis of the Parkin gene in the 174 multiple
200 Deletion and
mutation analysis of the PKCalpha promoter fused to the
201 Here, through random
mutation analysis of the Potato Potexvirus X (PVX) silen
202 Mutation analysis of the promoter and chromatin immunopr
203 ng motif in its promoter, as demonstrated by
mutation analysis of the promoter, EMSA, and ChIP.
204 Mutation analysis of the putative amphipathic helix in t
205 s article reports the positional cloning and
mutation analysis of the rat PKD gene, which revealed a
206 Deletion and
mutation analysis of the txnip promoter identified a fun
207 Deletion and
mutation analysis of the VEGF gene promoter identified a
208 grown in three-dimensional culture and that
mutation analysis of these residues (T457A/S459A) or F45
209 sceptibility locus on 1q22, although initial
mutation analysis of this gene has not identified any sc
210 during melanocytic neoplasia, we carried out
mutation analysis on microdissected melanoma and nevi sa
211 methods to detect such losses have relied on
mutation analysis or deletion of the gene.
212 recorded, plasma phenotype analyzed, and VWF
mutation analysis performed in all index cases (ICs).
213 Our
mutation analysis provides a valuable resource for AIDS
214 If these data are confirmed,
mutation analysis rather than tissue sampling may prove
215 ered clinical deletion analysis and promoter-
mutation analysis,
respectively.
216 Mutation analysis resulted in the identification of a to
217 Mutation analysis resulted in the identification of muta
218 atin immunoprecipitation as well as deletion/
mutation analysis reveal that selenocysteine tRNA transc
219 Structural modeling and
mutation analysis reveal that, by constituting a steric
220 Mutation analysis revealed >/=1 mutations in 57% of pati
221 Mutation analysis revealed a cav-1 binding motif in TLR4
222 Mutation analysis revealed a different homozygous mutati
223 Subsequent
mutation analysis revealed a novel missense mutation, wh
224 Deletion
mutation analysis revealed a putative polarization domai
225 Paired RGP/VGP
mutation analysis revealed a trend toward discordance in
226 Mutation analysis revealed direct binding of USP18 to th
227 ith its target, maltose-binding protein, and
mutation analysis revealed dominant contributions of Tyr
228 Whereas
mutation analysis revealed no missense substitutions, ex
229 Mutation analysis revealed six distinct missense mutatio
230 Further molecular and single
mutation analysis revealed that a valine (V) residue at
231 Point
mutation analysis revealed that A30, V33, W38, and E39 o
232 Mutation analysis revealed that lysine 250 was a crucial
233 Further deletion/
mutation analysis revealed that multiple transcription f
234 Deletion
mutation analysis revealed that Nrf3 repression of NQO1
235 nteraction of miR-142 with the SIRT1 3'-UTR,
mutation analysis revealed that only the miR-142-5p targ
236 DNA
mutation analysis revealed that the glutamate metabotrop
237 Further
mutation analysis revealed that the proximal E-box (E3)
238 Mutation analysis revealed that these two patients harbo
239 Mutation analysis revealed the importance of conserved p
240 Furthermore,
mutation analysis revealed the three nucleotides from -2
241 Point
mutation analysis reveals that leucine at position 83 is
242 is negative, a false-negative result of the
mutation analysis should be considered.
243 teria for PV, ET, and PMF is warranted; JAK2
mutation analysis should be listed as a major criterion
244 Moreover, extended
mutation analysis showed homozygous somatic mutations in
245 IGHV
mutation analysis showed that all FL-B-LBL pairs harbore
246 Deletion
mutation analysis showed that GIT1(SHD) is required for
247 DNA binding and
mutation analysis showed that gMyb2 binds specifically t
248 Mutation analysis showed that inactivation of key genes
249 Moreover,
mutation analysis showed that MAGP-2 does not stimulate
250 Mutation analysis showed that MAPKAPK2 phosphorylated 14
251 Mutation analysis showed that repression was dependent o
252 However, combinatorial
mutation analysis showed that the 1,000-fold induction i
253 Additionally,
mutation analysis showed that the 40-bp intervening sequ
254 Mutation analysis showed that the GAIT element contained
255 Mutation analysis showed that the nucleophilic side chai
256 urthermore, PKCzeta phosphorylates ERK5, and
mutation analysis showed that the preferred site is S486
257 Intriguingly, our
mutation analysis showed the presence of activation muta
258 Mutation analysis shows that only four of the eight PS a
259 A and must be taken into account in any FEN1
mutation analysis studies.
260 Mutation analysis suggested that the TATA box in the bas
261 We used
mutation analysis suitable for identification of both do
262 reased histone acetylation, and reporter and
mutation analysis support the concept that RORgamma regu
263 Subclonal point
mutation analysis supports a similar model, although a f
264 Mutation analysis targeted to a 34 Mb domain flanked by
265 Here, we (i) establish by
mutation analysis that the 72-nt intracistronic SLV imme
266 Furthermore, we show, by NRE
mutation analysis,
that interaction of these proteins wi
267 From truncation
mutation analysis,
the capacity for XAB2 to promote HR c
268 Mutation analysis through in vitro cell expression studi
269 We performed a comprehensive
mutation analysis to evaluate the impact of 14 MF-associ
270 le-stranded DNA, protein docking on DNA, and
mutation analysis to identify the amino acids involved i
271 g test to define probable PCD cases and gene
mutation analysis to make a definitive diagnosis of PCD
272 We have used map-based cloning and
mutation analysis to study the recognition of Peronospor
273 Mutation analysis used genomic DNA extracted from the dr
274 Mutation analysis using gene targeting to create null mu
275 We performed PMS2
mutation analysis using long-range polymerase chain reac
276 In contrast,
mutation analysis using Sanger sequencing of PB and seru
277 A miniaturized system for DNA
mutation analysis,
utilizing temperature gradient gel el
278 KIT and PDGFRA
mutation analysis was done in 27 pediatric GISTs.
279 Mutation analysis was performed after sequencing the ent
280 Mutation analysis was performed by amplification of exon
281 Standardized hotspot
mutation analysis was performed in 2,000 patients, using
282 FLG
mutation analysis was performed on 1890 of the children.
283 BRAF V600E
mutation analysis was performed using allele-specific po
284 activation by UVB in HFK, promoter deletion/
mutation analysis was performed.
285 EGFR
mutation analysis was possible in 107 (90%) of the 119 p
286 EGFR
mutation analysis was possible in 91% (164 of 181) of pa
287 ble in 107 (90%) of the 119 patients in whom
mutation analysis was requested.
288 Mutation analysis was utilized to examine the specific r
289 Moreover, by
mutation analysis we found that the ability of Oct-2 to
290 Using deletion and
mutation analysis,
we define motifs required for enhance
291 Through a domain
mutation analysis,
we demonstrate a distinct dependence
292 Upon
mutation analysis,
we detected multiple MOGS genotypes i
293 Using a comprehensive
mutation analysis,
we found that E6-AP catalyzes the syn
294 tion), and 5' regulatory region deletion and
mutation analysis,
we found that two of these E-boxes ar
295 whole-exome resequencing and high-throughput
mutation analysis,
we identified recessive biallelic mut
296 n fibroblasts and data on disease course and
mutation analysis were available.
297 Next-generation sequencing and
mutation analysis were performed on 24 genes related to
298 ectroretinography, and the results of MMACHC
mutation analysis were reviewed retrospectively.
299 and the cost of Sanger sequencing complicate
mutation analysis,
which can aid diagnostics of ADPKD.
300 Point
mutation analysis within the allosteric region revealed