Suchergebnisse - "Colclough, Kevin"

PubPharm (124)

51

Evaluation of pregnancy outcomes in women with GCK‐MODY

enthalten in: Diabetic Medicine | 2021

von López Tinoco, C. | Sánchez Lechuga, B. | Bacon, S. | +8

52

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus : Case Series

enthalten in: Journal of clinical research in pediatric endocrinology | 2020

von Sethi, A. | Foulds, N. | Ehtisham, S. | +6

ErratumIn: J Clin Res Pediatr Endocrinol. 2021 Jun 2;13(2):249. - PMID 34082491

53

Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912

enthalten in: Diabetes care | 2020

von Misra, S. | Hassanali, N. | Bennett, A. | +7

CommentOn: Diabetes Care. 2020 Apr;43(4):909-912. - PMID 32001615

54

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation

enthalten in: American journal of human genetics | 2020

von Althari, S. | Najmi, L. | Bennett, A. | +15

55

Congenital hyperinsulinism due to mutations in HNF1A

enthalten in: European journal of medical genetics | 2020

von Yau, D. | Colclough, K. | Natarajan, A. | +5

56

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome

enthalten in: The journal of pediatric endocrinology and metabolism | 2020

von Aghababaie, A. | Ford-Adams, M. | Buchanan, C. | +3

57

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome

enthalten in: Journal of pediatric endocrinology & metabolism : JPEM | 2020

von Aghababaie, A. | Ford-Adams, M. | Buchanan, C. | +3

58

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

enthalten in: Diabetes care | 2020

von Misra, S. | Hassanali, N. | Bennett, A. | +7

CommentIn: Diabetes Care. 2020 Oct;43(10):e154. - PMID 32958620

59

Case report : adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

enthalten in: BMC medical genetics | 2020

von Sanchez-Lechuga, B. | Saqlain, M. | Ng, N. | +3

60

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

enthalten in: BMC medical genetics | 2020

von Sanchez-Lechuga, B. | Saqlain, M. | Ng, N. | +3