about
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationDetailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.The genetics of obesity: FTO leads the way.Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.SPG7 mutations are a common cause of undiagnosed ataxiaDe novo point mutations in patients diagnosed with ataxic cerebral palsy.Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations.Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetesA truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.CGAT: computational genomics analysis toolkit.Common variants in WFS1 confer risk of type 2 diabetes.Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.Analysis of TBC1D4 in patients with severe insulin resistance.The frequency of spinocerebellar ataxia type 23 in a UK population.Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Katherine Fawcett
@ast
Katherine Fawcett
@en
Katherine Fawcett
@es
Katherine Fawcett
@nl
Katherine Fawcett
@sl
type
label
Katherine Fawcett
@ast
Katherine Fawcett
@en
Katherine Fawcett
@es
Katherine Fawcett
@nl
Katherine Fawcett
@sl
prefLabel
Katherine Fawcett
@ast
Katherine Fawcett
@en
Katherine Fawcett
@es
Katherine Fawcett
@nl
Katherine Fawcett
@sl
P106
P21
P31
P496
0000-0002-6675-2112