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European Journal of Medical Genetics|September 24, 2005
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13Thomy de Ravel, Peter Aerssens, Joris R Vermeesch, et al.
European Journal of Medical Genetics|March 11, 2009
Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)Irina Balikova, Joris Robert Vermeesch, Jean-Pierre Fryns, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|August 20, 2002
Coping with twins discordant for intellectual disabilities: the mothers' viewBernice De Vos, Nele Jacobs, Lieve Vandemeulebroecke, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genesHilde Van Esch, Anna Jansen, Marijke Bauters, et al.
Journal of Communication Disorders|March 12, 2004
Speech and language in Wolf-Hirschhorn syndrome: a case-studyJohn Van Borsel, Sigrid De Grande, Griet Van Buggenhout, et al.
Annales De Genetique|April 6, 2002
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?Annick Vogels, Maureen Holvoet, Mie-Jef Descheemaeker, et al.
The Journal of Clinical Endocrinology and Metabolism|June 6, 2003
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophyVinaya Simha, Anil K Agarwal, Elif Arioglu Oral, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|January 23, 2003
The East Flanders Prospective Twin Survey (EFPTS)Catherine Derom, Robert Vlietinck, Evert Thiery, et al.
European Journal of Pediatrics|March 21, 2007
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)Thomy J L de Ravel, Koen Devriendt, Jean-Pierre Fryns, et al.
The Journal of Clinical Endocrinology and Metabolism|November 10, 2005
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid featuresHilde Van Esch, Anil K Agarwal, Philippe Debeer, et al.
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