Nemya Boesch

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

Isabel Filges, Benno Röthlisberger, Ariane C. Blattner et al. · Clinical Genetics · 2010 · 60 citations

Genetics, Molecular Biology, Molecular Genetics +17

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

Isabel Filges, Benno Röthlisberger, Nemya Boesch et al. · American Journal of Medical Genetics Part A · 2010 · 32 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +13

Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family

Isabel Filges, Benno Röthlisberger, Christoph Noppen et al. · American Journal of Medical Genetics Part A · 2009 · 18 citations

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Isabel Filges, C Kunz, Peter Miny et al. · Fertility and Sterility · 2011 · 17 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +9