Showing results (21-30 of 97) with videos related to
Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|June 29, 2017
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve diseaseCaroline Ovaert, Tiffany Busa, Emilie Faure, et al.European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|September 7, 2013
Putative criteria for predicting spontaneous regression of prenatally diagnosed thoracoabdominal cystic lesionsJean-Francois Lecompte, Geraldine Hery, Alain Potier, et al.Prenatal Diagnosis|April 11, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndromeTiffany Busa, Marine Legendre, Marie Bauge, et al.Human Mutation|January 29, 2003
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosisJean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, et al.American Journal of Medical Genetics. Part A|October 24, 2015
Prenatal findings in cardio-facio-cutaneous syndromeLudivine Templin, Clarisse Baumann, Tiffany Busa, et al.Journal of Medical Genetics|July 29, 2009
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasiaCécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al.American Journal of Medical Genetics. Part A|April 1, 2006
Behavioral and temperamental features of children with Costello syndromeCédric Galéra, Marie-Ange Delrue, Cyril Goizet, et al.American Journal of Medical Genetics. Part A|July 22, 2014
Whole ARX gene duplication is compatible with normal intellectual developmentCornel Popovici, Tiffany Busa, Odile Boute, et al.Behavior Genetics|April 2, 2011
Laterality preference and cognition: cross-syndrome comparison of patients with trisomy 21 (Down), del7q11.23 (Williams-Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) syndromesMichèle Carlier, Aude Gérard Desplanches, Nicole Philip, et al.Molecular Genetics & Genomic Medicine|June 16, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathyMathieu Cerino, Chloé Di Meglio, Francesca Albertini, et al.Pageof 10