Gabriele Gillessen‐Kaesbach

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Gene Deletion Data, Developmental Biology, Array‐cgh Characterization +15

Elements of morphology: Standard terminology for the ear

Alasdair G. W. Hunter, Jaime L. Frías, Gabriele Gillessen‐Kaesbach et al. · American Journal of Medical Genetics Part A · 2009 · 149 citations · Full text

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

Diana Mitter, Karin Buiting, Ferdinand von Eggeling et al. · American Journal of Medical Genetics Part A · 2006 · 140 citations · Full text

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Linlea Armstrong, Azza Abd El Monéim, Kirk Aleck et al. · American Journal of Medical Genetics Part A · 2004 · 102 citations

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori et al. · American Journal of Medical Genetics Part A · 2007 · 102 citations