IGSF1 variants in boys with familial delayed puberty

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

(2013) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

(2012) Yu Sun et al.   NATURE GENETICS

Normative Values for Testicular Volume Measured by Ultrasonography in a Normal Population from Infancy to Adolescence

(2011) J. Goede et al.   Hormone Research in Paediatrics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Association of the Timing of Puberty with a Chromosome 2 Locus

(2008) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Patterns of Inheritance of Constitutional Delay of Growth and Puberty in Families of Adolescent Girls and Boys Referred to Specialist Pediatric Care

(2007) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM