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American Journal of Medical Genetics|January 9, 2001
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing ageC Ginsburg, S Fokstuen, A SchinzelThe Journal of Pediatrics|June 4, 1999
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of pubertyS Fokstuen, C Ginsburg, M Zachmann, et al.European Journal of Pediatrics|February 24, 2001
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2S Fokstuen, K Vrticka, M Riegel, et al.American Journal of Medical Genetics|May 16, 1997
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patientsS Fokstuen, A Bottani, P F Medeiros, et al.Clinical Genetics|April 29, 1998
22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental originS Fokstuen, U Arbenz, S Artan, et al.Revue Medicale Suisse|July 7, 2005
[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy]S Fokstuen, J L Blouin, R Lyle, et al.Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|October 9, 2012
[Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications]E Dubruc, S Dupuis-Girod, P Khau Van Kien, et al.Clinical Genetics|April 18, 2013
Multiplex targeted high-throughput sequencing for Mendelian cardiac disordersS Fokstuen, P Makrythanasis, S Nikolaev, et al.Neuropediatrics|December 29, 2017
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative DisorderK Varvagiannis, S Hanquinet, M H Billieux, et al.Human Genomics|June 30, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersS Fokstuen, P Makrythanasis, E Hammar, et al.Pageof 1