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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
November 20, 2012
Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation
Erdem Durmaz, Sarah Flanagan, Afig Berdeli, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2011
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
Ronen Spiegel, Angus Dobbie, Corina Hartman, et al.
Genetic Testing and Molecular Biomarkers
|
May 2, 2009
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
Sian Ellard, Beverley Shields, Carolyn Tysoe, et al.
Clinical Endocrinology
|
May 28, 2004
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation
Bijay Vaidya, Viv Campbell, John H Tripp, et al.
Diabetes Research and Clinical Practice
|
October 14, 2014
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis
Yotsapon Thewjitcharoen, Ekgaluck Wanothayaroj, Thep Himathongkam, et al.
Human Molecular Genetics
|
December 22, 2009
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms
Roope Männikkö, Craig Jefferies, Sarah E Flanagan, et al.
Clinical Endocrinology
|
July 14, 2019
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review
Jonathan Mark Fussey, Bijay Vaidya, Dae Kim, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 28, 2015
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
Omer Babiker, Sarah E Flanagan, Sian Ellard, 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 Course
Emine 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 sulfonylurea
Patricia Taberner, Sarah E Flanagan, Deborah J Mackay, et al.
Page
of 44
Search research articles
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Showing results (81-90 of 439) with videos related to
Sort By:
Page
of 44
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
November 20, 2012
Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation
Erdem Durmaz, Sarah Flanagan, Afig Berdeli, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2011
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
Ronen Spiegel, Angus Dobbie, Corina Hartman, et al.
Genetic Testing and Molecular Biomarkers
|
May 2, 2009
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
Sian Ellard, Beverley Shields, Carolyn Tysoe, et al.
Clinical Endocrinology
|
May 28, 2004
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation
Bijay Vaidya, Viv Campbell, John H Tripp, et al.
Diabetes Research and Clinical Practice
|
October 14, 2014
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis
Yotsapon Thewjitcharoen, Ekgaluck Wanothayaroj, Thep Himathongkam, et al.
Human Molecular Genetics
|
December 22, 2009
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms
Roope Männikkö, Craig Jefferies, Sarah E Flanagan, et al.
Clinical Endocrinology
|
July 14, 2019
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review
Jonathan Mark Fussey, Bijay Vaidya, Dae Kim, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 28, 2015
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family
Omer Babiker, Sarah E Flanagan, Sian Ellard, 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 Course
Emine 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 sulfonylurea
Patricia Taberner, Sarah E Flanagan, Deborah J Mackay, et al.
Page
of 44