Silke Reif

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl et al. · European Journal of Human Genetics · 2015 · 149 citations · Full text

Sequencing, Mendelian Disorder, Genetic Disorder +7

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2

Katarina Lehmann, Petra Seemann, Jan H. Boergermann et al. · European Journal of Human Genetics · 2006 · 71 citations · Full text

Biology, Genetic Disorder, Natural Sciences +7

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman et al. · Human Mutation · 2006 · 64 citations · Full text

Different responses to drugs against overactive bladder in detrusor muscle of pig, guinea pig and mouse

Melinda Wüst, Beate Averbeck, Silke Reif et al. · European Journal of Pharmacology · 2002 · 26 citations

Molecular Pharmacology, Urological Research, Urology +12

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

Amir Jahić, Friedmar R. Kreuz, Pia Zacher et al. · Journal of the Neurological Sciences · 2014 · 17 citations

Molecular Diagnosis, Mendelian Disorder, Genetic Disorder +6