Hans‐Beat Hadorn

Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency

Andreas Holzinger, Esther M. Maier, Cornelius Bück et al. · The American Journal of Human Genetics · 2002 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

Uta Nennstiel, S. Arenz, Esther M. Maier et al. · Molecular Genetics and Metabolism · 2005 · 62 citations

Medicine, Molecular Genetics, Pediatrics +16

Expression and functional properties of the second predicted nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator fused to

Christoph O. Randak, Adelbert A. Roscher, Hans‐Beat Hadorn et al. · FEBS Letters · 1995 · 29 citations

Life Sciences, Biochemistry, Molecular Biology +13

Congenital Microvillus Atrophy in a Girl with Autosomal Dominant Hypochondroplasia

Peter Heinz‐Erian, Heinrich Schmidt, Martine Le Merrer et al. · Journal of Pediatric Gastroenterology and Nutrition · 1999 · 17 citations

Medicine, Genetics, Pathology +14

A recombinant polypeptide model of the second predicted nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator is a GTP‐binding protein

Christoph O. Randak, Peter Neth, Ennes A. Auerswald et al. · FEBS Letters · 1996 · 16 citations

Life Sciences, Biochemistry, Molecular Biology +12