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The Journal of Clinical Endocrinology and Metabolism|June 4, 2018
Macimorelin as a Diagnostic Test for Adult GH DeficiencyJose M Garcia, Beverly M K Biller, Márta Korbonits, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variantsCheng Xu, Daniele Cassatella, Almer M van der Sloot, et al.
European Journal of Human Genetics : EJHG|January 14, 2026
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort studyFernanda de Azevedo Correa, Imen Habibi, Jing Zhai, et al.
Orphanet Journal of Rare Diseases|March 22, 2017
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism, Corin Badiu, Marco Bonomi, et al.
European Journal of Endocrinology|February 9, 2018
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architecturesDaniele Cassatella, Sasha R Howard, James S Acierno, et al.
European Journal of Endocrinology|December 15, 2020
ESE audit on management of Adult Growth Hormone Deficiency in clinical practiceLuciana Maria Martel-Duguech, Jens Otto L Jorgensen, Marta Korbonits, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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