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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 18, 2003
Screening for genetic disordersNicole PhilipBehavior Genetics|May 17, 2011
Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndromeNicole Philip, Anne BassettAmerican Journal of Medical Genetics. Part A|August 12, 2003
MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemiaKarine Nguyen, Sabine Sigaudy, Nicole PhilipPrenatal Diagnosis|July 19, 2002
Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndromeMarie Soulier, Sabine Sigaudy, Cécile Chau, et al.Fetal Diagnosis and Therapy|June 18, 2002
Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmasChantal Farra, Caroline Piquet, Marc Guillaume, et al.American Journal of Perinatology|April 6, 2006
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case reportLaurence Fayol, Patricia Garcia, Danièle Denis, et al.European Journal of Medical Genetics|September 11, 2016
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH geneTiffany Busa, Nicoleta Panait, Kathia Chaumoitre, et al.Gene|November 6, 2012
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counselingTiffany Busa, Brigitte Chabrol, Odile Perret, et al.Annales De Genetique|September 1, 2004
Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletionMarie-Antoinette Voelckel, Lydie Girardot, Bernard Giusiano, et al.Journal of Medical Case Reports|March 19, 2018
An atypical autistic phenotype associated with a 2q13 microdeletion: a case reportJokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, et al.Pageof 10