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Human Genetics|April 24, 2003
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activityCan Schell-Apacik, Mariel Rivero, Jessica L Knepper, et al.European Journal of Pediatrics|May 8, 2007
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literatureChayim Can Schell-Apacik, Monika Cohen, Stepan Vojta, et al.Human Genetics|September 1, 2005
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephalySarah A Shoichet, Stella-Amrei Kunde, Petra Viertel, et al.American Journal of Medical Genetics. Part A|September 17, 2008
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patientsChayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, et al.European Journal of Human Genetics : EJHG|March 17, 2005
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndromeDenise Horn, Magdalena Chyrek, Saskia Kleier, et al.Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.Pageof 1