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Journal of Medical Genetics|July 1, 1996
Holoprosencephaly in the west of Scotland 1975-1994M L Whiteford, J L TolmieJournal of Medical Genetics|July 1, 1996
Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counsellingM C Valero, E Velasco, A Valero, et al.Journal of Medical Genetics|July 1, 1996
An autosomal dominant syndrome of renal and anogenital malformations with syndactylyA J Green, R N Sandford, B C DavisonJournal of Medical Genetics|June 1, 1996
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasiaG A Wallis, B Rash, B Sykes, et al.Journal of Medical Genetics|November 23, 2016
Genetic determinants of myocardial dysfunctionXianchi Li, Peiying ZhangJournal of Medical Genetics|November 19, 2016
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytomaNelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, et al.Journal of Medical Genetics|November 1, 1989
Abnormal chromosome complement resulting from a familial inversion of chromosome 2S Richter, B Lockwood, D Lockwood, et al.Journal of Medical Genetics|November 2, 2016
Congenital valvular defects associated with deleterious mutations in the PLD1 geneAsaf Ta-Shma, Kai Zhang, Ekaterina Salimova, et al.Journal of Medical Genetics|September 1, 1988
Prospective prenatal screening for fetal abnormalities using a quantitative immunoassay for acetylcholinesteraseD J Brock, L BarronJournal of Medical Genetics|February 1, 1988
An autosomal dominant multiple pterygium syndromeC M McKeown, R HarrisPageof 649