Hans-Gerd Kehl

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary MacDougall, Changming Lu et al. · The American Journal of Human Genetics · 2015 · 222 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism

Ulrike Nowak‐Göttl, Hans Georg Koch, I. Aschka et al. · British Journal of Haematology · 1996 · 167 citations

Genetics, Pathology, Factor V Gene +19

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Luciana Musante, Hans-Gerd Kehl, Frank Majewski et al. · European Journal of Human Genetics · 2003 · 159 citations · Full text

Mendelian Disorder, Cardio-facio-cutaneous Syndrome, Genetic Disorder +7

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke et al. · The American Journal of Human Genetics · 2007 · 103 citations · Full text

Developmental Biology, Biochemistry, Genetic Disorder +8

Singleton–Merten syndrome: An autosomal dominant disorder with variable expression

Annette Feigenbaum, Christine Müller, Christopher Yale et al. · American Journal of Medical Genetics Part A · 2013 · 80 citations