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American Journal of Medical Genetics. Part A|January 25, 2014
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6BHung-Chun Yu, Elizabeth A Geiger, Livija Medne, et al.Journal of Medical Genetics|December 1, 1976
Abnormal chromosome 22 and recurrence of trisomy-22 syndromeB S Emanuel, E H Zackai, M M Aronson, et al.Archives of Otolaryngology--Head & Neck Surgery|December 17, 2002
Otolaryngologic manifestations of the 22q11.2 deletion syndromeOrville Dyce, Donna McDonald-McGinn, Richard E Kirschner, et al.American Journal of Medical Genetics. Part A|April 4, 2003
Crane-Heise syndrome: a second familial case report with elaboration of phenotypeDina J Zand, David Carpentieri, Dale Huff, et al.Prenatal Diagnosis|August 9, 2001
Early ultrasound diagnosis of Neu-Laxova syndromeM E Rode, M T Mennuti, R M Giardine, et al.The Journal of Pediatrics|April 1, 1993
Diaphragmatic hernia in tetrasomy 12p mosaicismJ Bergoffen, H Punnett, T J Campbell, et al.Clinical Genetics|June 18, 2004
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defectsS H Shim, H E Wyandt, D M McDonald-McGinn, et al.The American Journal of Cardiology|December 20, 2005
Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletionTiffanie R Johnson, Elizabeth Goldmuntz, Donna M McDonald-McGinn, et al.American Journal of Medical Genetics|June 1, 1990
Partial duplication 1q: report of four patients and review of the literatureS A Rasmussen, J L Frias, C Z Lafer, et al.Journal of Medical Genetics|August 1, 1996
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndromeN N Ahmad, D M McDonald-McGinn, P Dixon, et al.Pageof 63