Petra Muschke

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Ilse Wieland, Sibylle Jakubiczka, Petra Muschke et al. · The American Journal of Human Genetics · 2004 · 239 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth et al. · American Journal of Medical Genetics Part A · 2005 · 86 citations

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Michael J. B. Krieger, Andreas Roos, Claudia Stendel et al. · Brain · 2013 · 85 citations · Full text

Rare Diseases, Mendelian Disorder, Autoimmune Disease +15

Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p^,**

H. Eckel, R. Wimmer, Marianne Volleth et al. · American Journal of Medical Genetics Part A · 2006 · 80 citations