B Steinmann

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai et al. · Cell · 2001 · 2.2K citations · Full text

Bone Accrual, Sclerostin, Signal Transduction +8

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

Andrea Superti‐Furga, B Steinmann, R Gitzelmann et al. · European Journal of Pediatrics · 1995 · 102 citations

Fibrosis, Developmental Biology, Signal Transduction +14

The diagnosis of hereditary fructose intolerance.

B Steinmann, R Gitzelmann · PubMed · 1981 · 73 citations

Nutrition, Metabolic Disorder, Diagnosis +22

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer et al. · Human Genetics · 1996 · 59 citations

Developmental Anomaly, Developmental Biology, Diastrophic Dysplasia +6

Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.

K Baerlocher, R Gitzelmann, B Steinmann et al. · PubMed · 1978 · 54 citations

Electrolyte Disorder, Gastroenterology, Pathology +21