S. Balg

Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations

Ute Moog, Kerstin Kutsche, Fanny Kortüm et al. · Journal of Medical Genetics · 2011 · 136 citations

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations · Full text

Biology, Sotos Syndrome, Developmental Biology +9

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)

Andreas Dufke, Katja Eggermann, S. Balg et al. · Cytogenetic and Genome Research · 2000 · 78 citations

Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p

Steven von Gernet, Simone Schuffenhauer, Astrid Golla et al. · American Journal of Medical Genetics · 1996 · 17 citations