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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationGLO1-A novel amplified gene in human cancerGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A regionMutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationMutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusMutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorGenome-wide association analysis identifies 13 new risk loci for schizophreniaInteraction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data.Somatic mutations of the histone H3K27 demethylase gene UTX in human cancerLung cancer: intragenic ERBB2 kinase mutations in tumours.Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.Signatures of mutation and selection in the cancer genome.Somatic mutations of the protein kinase gene family in human lung cancer.Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
P50
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P50
description
onderzoeker
@nl
name
Sara Widaa
@ast
Sara Widaa
@en
Sara Widaa
@es
Sara Widaa
@nl
Sara Widaa
@sl
type
label
Sara Widaa
@ast
Sara Widaa
@en
Sara Widaa
@es
Sara Widaa
@nl
Sara Widaa
@sl
prefLabel
Sara Widaa
@ast
Sara Widaa
@en
Sara Widaa
@es
Sara Widaa
@nl
Sara Widaa
@sl