Harald Gaspar

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice

Bryn D. Webb, Sherin Shaaban, Harald Gaspar et al. · The American Journal of Human Genetics · 2012 · 85 citations · Full text

Knockout Mouse, Hoxb1 Mice, Developmental Biology +8

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme et al. · Human Mutation · 2012 · 83 citations · Full text

Inflammatory Lung Disease, Lung Inflammation, Recessive Cutis Laxa +22

Genotypic and phenotypic analysis of 396 individuals with mutations in <i>Sonic Hedgehog</i>

Benjamin D. Solomon, Kelly Bear, Adrian Wyllie et al. · Journal of Medical Genetics · 2012 · 70 citations

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

F Schmid, Esther Glaus, Daniel Barthelmes et al. · Human Mutation · 2011 · 61 citations

Family Members, Genetics, Rna Splicing +19

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors

Cathrin Huth, Matthias Kloor, Anita Y. Voigt et al. · Modern Pathology · 2012 · 59 citations

Tumor Biology, Medicine, Pathology +10