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Sian Ellard

Showing results (11-20 of 439) with videos related to

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Human Mutation|January 18, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinismAnna L Gloyn, Juveria Siddiqui, Sian Ellard
Indian Pediatrics|July 17, 2012
Permanent neonatal diabetes caused by a novel mutationVandana Jain, Sarah E Flanagan, Sian Ellard
Nature Clinical Practice. Endocrinology & Metabolism|February 28, 2008
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetesRinki Murphy, Sian Ellard, Andrew T Hattersley
Genetic Testing and Molecular Biomarkers|July 21, 2010
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutationsSarah E Flanagan, Ann-Marie Patch, Sian Ellard
Diabetes|January 30, 2004
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decayLorna W Harries, Andrew T Hattersley, Sian Ellard
The Journal of Clinical Endocrinology and Metabolism|July 23, 2018
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer"Clare Turnbull, Chey Loveday, Louise Izatt, et al.
Clinical Dysmorphology|November 6, 2019
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotypeTala Andoni, Sian Ellard, Jogesh Kapadia, et al.
Diabetes|November 18, 2021
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the YoungKevin Colclough, Sian Ellard, Andrew Hattersley, et al.
Reviews in Endocrine & Metabolic Disorders|October 6, 2010
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11Emma L Edghill, Sarah E Flanagan, Sian Ellard
Clinical Endocrinology|August 5, 2008
Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1Martina Owens, Karen Stals, Sian Ellard, et al.
Pageof 44

Showing results (11-20 of 439) with videos related to

Sort By:
Pageof 44
Human Mutation|January 18, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinismAnna L Gloyn, Juveria Siddiqui, Sian Ellard
Indian Pediatrics|July 17, 2012
Permanent neonatal diabetes caused by a novel mutationVandana Jain, Sarah E Flanagan, Sian Ellard
Nature Clinical Practice. Endocrinology & Metabolism|February 28, 2008
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetesRinki Murphy, Sian Ellard, Andrew T Hattersley
Genetic Testing and Molecular Biomarkers|July 21, 2010
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutationsSarah E Flanagan, Ann-Marie Patch, Sian Ellard
Diabetes|January 30, 2004
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decayLorna W Harries, Andrew T Hattersley, Sian Ellard
The Journal of Clinical Endocrinology and Metabolism|July 23, 2018
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer"Clare Turnbull, Chey Loveday, Louise Izatt, et al.
Clinical Dysmorphology|November 6, 2019
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotypeTala Andoni, Sian Ellard, Jogesh Kapadia, et al.
Diabetes|November 18, 2021
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the YoungKevin Colclough, Sian Ellard, Andrew Hattersley, et al.
Reviews in Endocrine & Metabolic Disorders|October 6, 2010
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11Emma L Edghill, Sarah E Flanagan, Sian Ellard
Clinical Endocrinology|August 5, 2008
Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1Martina Owens, Karen Stals, Sian Ellard, et al.
Pageof 44