J E Toublanc

Four families with loss of function mutations of the thyrotropin receptor.

Nicolás de Roux, Micheline Misrahi, Raja Brauner et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 157 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Hélène Blons, D Feldmann, Vincent Duval et al. · Clinical Genetics · 2004 · 98 citations

Life Sciences, Genetics, Molecular Genetics +13

Guidelines for neonatal screening programs for congenital hypothyroidism

J E Toublanc · Acta Paediatrica · 1999 · 56 citations

Medicine, Endocrinology, Pediatrics +14

Three‐year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation

A. Fjellestad‐Paulsen, P Czernichow, Raja Brauner et al. · Acta Paediatrica · 1998 · 51 citations

Medicine, Endocrinology, Pediatrics +17

Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.

R. Medlej, J M Lobaccaro, Philippe Berta et al. · The Journal of Clinical Endocrinology & Metabolism · 1992 · 49 citations

Life Sciences, Endocrinology, Genetics +17