Lista de obras - Katherine Fawcett - Dominio Público Uruguay

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

scholarly article

Analysis of TBC1D4 in patients with severe insulin resistance.

artículo científico publicado en 2010

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

artículo científico publicado en 2014

CGAT: computational genomics analysis toolkit

artículo científico publicado en 2014

Common variants in WFS1 confer risk of type 2 diabetes

artículo científico publicado en 2007

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

artículo científico publicado en 2012

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

artículo científico publicado en 2018

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

artículo científico publicado en 2015

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk

artículo científico publicado en 2009

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

artículo científico publicado en 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

artículo científico publicado en 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

artículo científico publicado en 2017

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

artículo científico publicado en 2008

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

scientific article published on 27 March 2017

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

artículo científico publicado en 2012

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

artículo científico publicado en 2013

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

artículo científico publicado en 2012

SNPs associated withHHIPexpression have differential effects on lung function in males and females

SPG7 mutations are a common cause of undiagnosed ataxia

artículo científico publicado en 2015

The frequency of spinocerebellar ataxia type 23 in a UK population.

artículo científico publicado en 2012

The genetics of obesity: FTO leads the way.

artículo científico publicado en 2010

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

artículo científico publicado en 2017

Variants associated with expression have sex-differential effects on lung function

artículo científico publicado en 2020

Lista de obras de Katherine Fawcett

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

Analysis of TBC1D4 in patients with severe insulin resistance.

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

CGAT: computational genomics analysis toolkit

Common variants in WFS1 confer risk of type 2 diabetes

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

SNPs associated withHHIPexpression have differential effects on lung function in males and females

SPG7 mutations are a common cause of undiagnosed ataxia

The frequency of spinocerebellar ataxia type 23 in a UK population.

The genetics of obesity: FTO leads the way.

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

Variants associated with expression have sex-differential effects on lung function