نتایج جستجو برای: abcc8
تعداد نتایج: 478 فیلتر نتایج به سال:
Journal:
:Diabetes Therapy
2016
Journal:
:Scientific Reports
2017
Journal:
:Journal of Biological Chemistry
2011
Journal:
:Clinical Pediatric Endocrinology
2016
Journal:
:European Journal of Endocrinology
2014
Journal:
:Journal of the Endocrine Society
2020
Journal:
:International Journal of Pediatric Endocrinology
2014
Journal:
:Frontiers in Endocrinology
2020
2016
Pınar Kocaay
Zeynep Şiklar
Sian Ellard
Aydın Yagmurlu
Emine Çamtosun
Esra Erden
Merih Berberoglu
Sarah E. Flanagan
BACKGROUND Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at c...
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