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

Diagnosis of subclinical central hypothyroidism in patients with hypothalamic–pituitary disease by Doppler echocardiography

(2012) Fabio Casanova Doin et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

Testicular Failure in Boys with Prader-Willi Syndrome: Longitudinal Studies of Reproductive Hormones

(2011) Elbrich P. C. Siemensma et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

(2011) C. Gaston-Massuet et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and SNP-tolerant detection of complex variants and splicing in short reads

(2010) T. D. Wu et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Twenty-five years of quantitative PCR for gene expression analysis

(2008) Heather D. VanGuilder et al.   BIOTECHNIQUES

Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome

(2008) M. E. Kevenaar et al.   HUMAN REPRODUCTION

An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein

(2008) Thalia Robakis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impact of subclinical thyroid disorders on coronary heart disease, cardiovascular and all-cause mortality: A meta-analysis

(2007) Sarabjeet Singh et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Role of the Thyrotropin-Releasing Hormone Stimulation Test in Diagnosis of Congenital Central Hypothyroidism in Infants

(2007) David A. van Tijn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM