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Sarah E Flanagan

Showing results (41-50 of 230) with videos related to

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Frontiers in Pediatrics|July 17, 2020
A Novel <i>HNF4A</i> Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a FamilySuresh Chandran, Victor Samuel Rajadurai, Wai Han Hoi, et al.
Journal of Clinical Research in Pediatric Endocrinology|August 29, 2015
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical CourseEmine Çamtosun, Sarah E Flanagan, Sian Ellard, et al.
Diabetes Research and Clinical Practice|June 23, 2016
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylureaPatricia Taberner, Sarah E Flanagan, Deborah J Mackay, et al.
The Journal of Clinical Investigation|February 22, 2023
Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growthAlice E Hughes, Elisa De Franco, Rachel M Freathy, 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.
The Journal of Clinical Endocrinology and Metabolism|November 29, 2013
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemiaVed Bhushan Arya, Sarah E Flanagan, Edith Schober, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 8, 2019
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8Louise Apperley, Dinesh Giri, Jayne A L Houghton, et al.
Human Mutation|April 14, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsJasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, 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.
Journal of Clinical Research in Pediatric Endocrinology|June 11, 2013
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 geneMehmet Boyraz, Korkut Ulucan, Necati Taşkın, et al.
Pageof 23

Showing results (41-50 of 230) with videos related to

Sort By:
Pageof 23
Frontiers in Pediatrics|July 17, 2020
A Novel <i>HNF4A</i> Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a FamilySuresh Chandran, Victor Samuel Rajadurai, Wai Han Hoi, et al.
Journal of Clinical Research in Pediatric Endocrinology|August 29, 2015
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical CourseEmine Çamtosun, Sarah E Flanagan, Sian Ellard, et al.
Diabetes Research and Clinical Practice|June 23, 2016
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylureaPatricia Taberner, Sarah E Flanagan, Deborah J Mackay, et al.
The Journal of Clinical Investigation|February 22, 2023
Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growthAlice E Hughes, Elisa De Franco, Rachel M Freathy, 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.
The Journal of Clinical Endocrinology and Metabolism|November 29, 2013
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemiaVed Bhushan Arya, Sarah E Flanagan, Edith Schober, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 8, 2019
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8Louise Apperley, Dinesh Giri, Jayne A L Houghton, et al.
Human Mutation|April 14, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsJasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, 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.
Journal of Clinical Research in Pediatric Endocrinology|June 11, 2013
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 geneMehmet Boyraz, Korkut Ulucan, Necati Taşkın, et al.
Pageof 23