Beat Steinmann

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Peter Beighton, Anne De Paepe, Beat Steinmann et al. · American Journal of Medical Genetics · 1998 · 1.8K citations

Life Sciences, Genetics, Genodermatoses +7

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

Medicine, Genetics, Pediatrics +13

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

René Santer, Reinhard Schneppenheim, Anja Dombrowski et al. · Nature Genetics · 1997 · 335 citations

Life Sciences, Genetics, Molecular Genetics +13

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Andrea Superti‐Furga, Johanna Hästbacka, William R. Wilcox et al. · Nature Genetics · 1996 · 237 citations

Life Sciences, Genetics, Molecular Genetics +8

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht et al. · The American Journal of Human Genetics · 2008 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9