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Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

artículo científico publicado en 2004

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

artículo científico publicado en 2008

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

artículo científico publicado en 2013

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review

scientific article published on 16 May 2019

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

scientific article published on 20 January 2020

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