about
High prevalence of SLC6A8 deficiency in X-linked mental retardationA prevalent pathogenic GAMT mutation (c.59G>C) in PortugalPhase II Study of WEE1 Inhibitor AZD1775 Plus Carboplatin in Patients With TP53-Mutated Ovarian Cancer Refractory or Resistant to First-Line Therapy Within 3 Months.X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseHPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP5319p13.1 is a triple-negative-specific breast cancer susceptibility locus.RAD51B in Familial Breast CancerDetection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.Double somatic mutations in mismatch repair genes are frequent in colorectal cancer after Hodgkin's lymphoma treatment.Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.Immune-escape markers in relation to clinical outcome of advanced melanoma patients following immunotherapy.Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplificationCrizotinib treatment for patients with EGFR mutation positive NSCLC that acquire cMET amplification after EGFR TKI therapy results in short-lived and heterogeneous responses[BRCAmutations more frequent in people of Jewish ancestry]
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Efraim H Rosenberg
@ast
Efraim H Rosenberg
@en
Efraim H Rosenberg
@es
Efraim H Rosenberg
@nl
Efraim H Rosenberg
@sl
type
label
Efraim H Rosenberg
@ast
Efraim H Rosenberg
@en
Efraim H Rosenberg
@es
Efraim H Rosenberg
@nl
Efraim H Rosenberg
@sl
altLabel
Efraim Rosenberg
@en
prefLabel
Efraim H Rosenberg
@ast
Efraim H Rosenberg
@en
Efraim H Rosenberg
@es
Efraim H Rosenberg
@nl
Efraim H Rosenberg
@sl
P1053
C-7180-2008
P106
P31
P496
0000-0002-3859-6941