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Sian Ellard

Showing results (91-100 of 439) with videos related to

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European Journal of Pediatrics|January 5, 2008
A family with a novel TSH receptor activating germline mutation (p.Ala485Val)Sema Akcurin, Doga Turkkahraman, Carolyn Tysoe, et al.
Journal of Diabetes Investigation|June 23, 2016
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes centerEllen Ra Thomas, Anna Brackenridge, Julia Kidd, et al.
Indian Journal of Pediatrics|August 2, 2016
Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 GeneMohit Kehar, Sunita Bijarnia, Sian Ellard, et al.
European Journal of Medical Genetics|April 27, 2019
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex ChdAnna Le Fevre, Julia Baptista, Sian Ellard, et al.
The Journal of Molecular Diagnostics : JMD|January 26, 2007
Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutationElizabeth C Wolstencroft, Katy Hanlon, Lorna W Harries, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 12, 2014
Three cases of Wolfram syndrome with different clinical aspectsEmine Çamtosun, Zeynep Şıklar, Pınar Kocaay, et al.
Diabetes Care|November 28, 2002
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriersAmanda Stride, Maggie Shepherd, Timothy M Frayling, et al.
Indian Journal of Pediatrics|October 5, 2010
The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β geneVarun Aggarwal, Sriram Krishnamurthy, Anju Seth, et al.
Diagnostic Pathology|January 5, 2017
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitusDaphne Yau, Elisa De Franco, Sarah E Flanagan, et al.
Diabetes Care|June 29, 2005
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriersAmanda Stride, Sian Ellard, Penny Clark, et al.
Pageof 44

Showing results (91-100 of 439) with videos related to

Sort By:
Pageof 44
European Journal of Pediatrics|January 5, 2008
A family with a novel TSH receptor activating germline mutation (p.Ala485Val)Sema Akcurin, Doga Turkkahraman, Carolyn Tysoe, et al.
Journal of Diabetes Investigation|June 23, 2016
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes centerEllen Ra Thomas, Anna Brackenridge, Julia Kidd, et al.
Indian Journal of Pediatrics|August 2, 2016
Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 GeneMohit Kehar, Sunita Bijarnia, Sian Ellard, et al.
European Journal of Medical Genetics|April 27, 2019
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex ChdAnna Le Fevre, Julia Baptista, Sian Ellard, et al.
The Journal of Molecular Diagnostics : JMD|January 26, 2007
Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutationElizabeth C Wolstencroft, Katy Hanlon, Lorna W Harries, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 12, 2014
Three cases of Wolfram syndrome with different clinical aspectsEmine Çamtosun, Zeynep Şıklar, Pınar Kocaay, et al.
Diabetes Care|November 28, 2002
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriersAmanda Stride, Maggie Shepherd, Timothy M Frayling, et al.
Indian Journal of Pediatrics|October 5, 2010
The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β geneVarun Aggarwal, Sriram Krishnamurthy, Anju Seth, et al.
Diagnostic Pathology|January 5, 2017
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitusDaphne Yau, Elisa De Franco, Sarah E Flanagan, et al.
Diabetes Care|June 29, 2005
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriersAmanda Stride, Sian Ellard, Penny Clark, et al.
Pageof 44