jmg.bmj2d
The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...
jmg.bmj5d
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
Background Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a ...
jmg.bmj6d
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
1 Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA 2 Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood ...
jmg.bmj7d
Identification of candidate lung cancer susceptibility genes in mouse using oligonucleotide arrays
1 Division of Human Cancer Genetics, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, Ohio 43210, USA 2 School of Public Health, The Ohio State University ...