about
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 retardationMutations 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 study identifies a common variant in RAD51B associated with male breast cancer risk.The genetic architecture of type 2 diabetesSystematic sequencing of renal carcinoma reveals inactivation of histone modifying genesGenome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.Somatic mutations of the histone H3K27 demethylase gene UTX in human cancerSequence 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.Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Signatures of mutation and selection in the cancer genome.Somatic mutations of the protein kinase gene family in human lung cancer.Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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type
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Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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prefLabel
Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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Gemma Buck
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P21
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0000-0001-5289-1050