Peter H. Heidemann

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

Eleonora Gambineri, L Perroni, Laura Passerini et al. · Journal of Allergy and Clinical Immunology · 2008 · 222 citations · Full text

Life Sciences, Immunology, Molecular Genetics +14

Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz‐de‐Souza et al. · Human Mutation · 2007 · 157 citations · Full text

Medicine, Endocrinology, Genetics +17

Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Bengt Hanßke, Christian Thiel, Torben Lübke et al. · Journal of Clinical Investigation · 2002 · 131 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Bengt Hanßke, Christian Thiel, Torben Lübke et al. · Journal of Clinical Investigation · 2002 · 99 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

Friedhelm Raue, J. Pichl, Helmuth-G. Dörr et al. · Clinical Endocrinology · 2011 · 92 citations

Medicine, Endocrinology, Genetics +17