E. Kohne

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

Reinhard Schneppenheim, Ulrich Budde, Florian Oyen et al. · Blood · 2003 · 216 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients

Thiébaut-Noël Willig, Charlotte Niemeyer, Thierry Leblanc et al. · Pediatric Research · 1999 · 184 citations · Full text

Medicine, Hematology, Internal Medicine +12

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk J. Blom et al. · The American Journal of Human Genetics · 2011 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Insulin sensitivity and β-cell secretion in thalassaemia major with secondary haemochromatosis: assessment by oral glucose tolerance test

Holger Cario, Reinhard W. Holl, Klaus‐Michael Debatin et al. · European Journal of Pediatrics · 2003 · 112 citations

Medicine, Endocrinology, Hematology +17

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation

H. Heimpel, Klaus Schwarz, Monika Ebnöther et al. · Blood · 2005 · 111 citations · Full text

Medicine, Hematology, Molecular Genetics +17