Heide Seidel

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 178 citations · Full text

Developmental Anomaly, Molecular Diagnostic Techniques, Mendelian Disorder +9

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4

Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization

Maja Hempel, Núria Rivera Brugués, Janine Wagenstaller et al. · American Journal of Medical Genetics Part A · 2009 · 111 citations

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

AL Schulz, Beate Albrecht, I. van der Bürgt et al. · Clinical Genetics · 2007 · 108 citations

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +7