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American Journal of Human Genetics|January 1, 2013
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activationSarah E Flanagan, Weijia Xie, Richard Caswell, et al.
Diabetologia|October 23, 2021
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsKashyap A Patel, Mehmet N Ozbek, Melek Yildiz, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
The Journal of Clinical Endocrinology and Metabolism|December 15, 2010
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patientsLaurent Maimoun, Pascal Philibert, Benoit Cammas, et al.
The Journal of Clinical Endocrinology and Metabolism|December 23, 2004
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, et al.
Endocrine|July 17, 2024
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohortZeynep Siklar, Emine Camtosun, Semih Bolu, et al.
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