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Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica|July 14, 2020
Techniques and results of palate fistula repair following palatoplasty: a 234-case multicenter studyM San Basilio, F Lobo Bailón, B Berenguer, et al.American Journal of Human Genetics|October 16, 1999
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasiaI Quack, B Vonderstrass, M Stock, et al.Cell|December 27, 1996
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2M Vikkula, L M Boon, K L Carraway, et al.Molecular Syndromology|October 30, 2013
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedemaA Mendola, M J Schlögel, A Ghalamkarpour, et al.Cell|May 30, 1997
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasiaS Mundlos, F Otto, C Mundlos, et al.Journal of Medical Genetics|February 4, 2005
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effectP Brouillard, M Ghassibé, A Penington, et al.Molecular Syndromology|June 27, 2013
Genotypes and phenotypes of 162 families with a glomulin mutationP Brouillard, L M Boon, N Revencu, et al.Molecular Syndromology|June 27, 2013
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb OvergrowthN Revencu, L M Boon, A Dompmartin, et al.American Journal of Human Genetics|April 28, 2001
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger, V Tiziani, S Watanabe, et al.American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.Pageof 21