about
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.A cautionary note on using binary calls for analysis of DNA methylation.Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.Co-occurrence of Jalili syndrome and muscular overgrowth.Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaEvidence for HNRNPH1 being another gene for Bain type syndromic mental retardationDNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of diseaseMultiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci
P50
Q33794084-44D6B42B-29EB-4DEF-A21E-3AF27258B0EAQ47366547-B9E795FC-C3C3-4C88-884F-CCD9C0FCAE7BQ47688311-A63B26C8-D367-4287-8C36-71AA2BBA23DBQ47758996-F1429C05-ED95-47E6-84B0-8CA7D43ECD09Q48095464-BA7FBC3F-13F0-41F9-8CB6-A1699460FDCDQ48113021-A9909D0B-BB08-4A66-A90B-526FC8CB0913Q50076536-2F2C7662-19CB-4B3A-960B-06113A486803Q50092105-F031107C-AC70-4198-8DE1-36F415D8C437Q50958962-5DE79F5D-2931-4D4E-A7CB-0E26000746D3Q52690730-18CF9289-1602-4B03-AAC0-72C0C07DD434Q53242563-0D65B089-EE7B-4C8C-88E3-55D19EACA2DDQ57484322-701903A7-9694-437F-BCD4-4192DA52EFBFQ57777125-27E047E4-A7ED-4F2C-8049-517A9E2824E4Q57777148-B0C921E6-87E0-4EC0-861E-64828C36F423Q93153681-021DA7B9-AA06-4413-90FD-BB1F8A01439B
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
type
P106
P31
P496
0000-0002-1037-7974