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The Journal of Bone and Joint Surgery. American Volume|August 5, 2004
Radiographic study of the upper cervical spine in the 22q11.2 deletion syndromeEric T Ricchetti, Lisa States, Harish S Hosalkar, et al.American Journal of Medical Genetics. Part A|May 12, 2005
Immune abnormalities are a frequent manifestation of Kabuki syndromeJodi D Hoffman, Karen L Ciprero, Kathleen E Sullivan, et al.American Journal of Medical Genetics. Part A|October 3, 2018
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndromeArpana Rayannavar, Lorraine E Levitt Katz, Terrence Blaine Crowley, et al.American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.Journal of Pediatric Ophthalmology and Strabismus|September 1, 1990
Stickler's syndrome in the Cleft Palate ClinicS D Kronwith, G Quinn, D M McDonald, et al.American Journal of Human Genetics|May 1, 1989
The role of cytologic NOR variants in the etiology of trisomy 21N B Spinner, D L Eunpu, R D Schmickel, et al.European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|August 25, 2009
Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiologyJean A Ballweg, Richard F Ittenbach, Judy Bernbaum, et al.Journal of Medical Genetics|July 1, 1995
Cerebellar atrophy in a patient with velocardiofacial syndromeD R Lynch, D M McDonald-McGinn, E H Zackai, et al.Journal of Medical Genetics|January 7, 2005
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndromeJ D Hoffman, Y Zhang, J Greshock, et al.American Journal of Human Genetics|September 1, 1994
Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18L Boghosian-Sell, R Mewar, W Harrison, et al.Pageof 63