Konstanze Hörtnagel

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Simone Rost, Andreas Fregin, Vytautas Ivaškevičius et al. · Nature · 2004 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 312 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Prenatal sonographic diagnosis of skeletal dysplasias

Thomas Schramm, K.-Ph. Gloning, S Minderer et al. · Ultrasound in Obstetrics and Gynecology · 2009 · 236 citations

Medicine, Maternal Health, Obstetrics +9

<i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

Johannes R. Lemke, Rik Hendrickx, Kirsten Geider et al. · Annals of Neurology · 2013 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17