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Journal of Medical Genetics|January 1, 1992
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales familiesJ C MacMillan, M Upadhyaya, P S HarperJournal of Medical Genetics|February 24, 2006
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reportsB Menten, N Maas, B Thienpont, et al.Journal of Medical Genetics|June 1, 1991
Maternal transmission of translocation 2;21 associated with Down's syndromeS V Kotwaliwale, V V Dicholkar, N D MotashawJournal of Medical Genetics|August 1, 1991
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikelyL Barron, A Curtis, A E Shrimpton, et al.Journal of Medical Genetics|July 1, 1991
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinismL B Giebel, M A Musarella, R A SpritzJournal of Medical Genetics|April 1, 1991
Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprintingR M Ridley, C D Frith, L A Farrer, et al.Journal of Medical Genetics|December 1, 1998
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotypeM Longy, V Coulon, B Duboué, et al.Journal of Medical Genetics|December 1, 1998
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27D Trump, P H Dixon, S Mumm, et al.Journal of Medical Genetics|December 1, 1998
Classical lissencephaly syndromes: does the face reflect the brain?J E Allanson, D H Ledbetter, W B DobynsJournal of Medical Genetics|December 1, 1998
Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?M V Zaragoza, E Millie, R W Redline, et al.Pageof 649