Bettina Bochow

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease

Grażyna Gromadzka, Hartmut Schmidt, Janine Genschel et al. · Clinical Genetics · 2005 · 154 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the NOD2/CARD15 gene in Crohn's disease are associated with ileocecal resection and are a risk factor for reoperation

Carsten Büning, Janine Genschel, Sabine Bühner et al. · Alimentary Pharmacology & Therapeutics · 2004 · 124 citations

Medicine, Molecular Genetics, Molecular Medicine +13

Wilson disease: Novel mutations in theATP7B gene and clinical correlation in Brazilian patients

Marta Mitiko Deguti, Janine Genschel, Eduardo Luiz Rachid Cançado et al. · Human Mutation · 2004 · 112 citations

Life Sciences, Genetics, Molecular Genetics +15

35th Annual Meeting of the European Association for the Study of Diabetes

Arne Melander, Jonny Olsson, Gunnar Lindberg et al. · Diabetologia · 1999 · 86 citations

Medicine, Endocrinology, Internal Medicine +11

p.H1069Q mutation in <i>ATP7B</i> and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease

H. Schmidt, Janine Genschel, Bettina Bochow et al. · Movement Disorders · 2005 · 68 citations

Life Sciences, Genetics, Molecular Genetics +17