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 tremorCombinations of PARP Inhibitors with Temozolomide Drive PARP1 Trapping and Apoptosis in Ewing's SarcomaSystematic sequencing of renal carcinoma reveals inactivation of histone modifying genesSomatic 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.
P50
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P50
description
onderzoeker
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name
Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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prefLabel
Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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Syd Barthorpe
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P106
P21
P31
P569
2000-01-01T00:00:00Z