Cholesterol at the crossroads
Making sense out of nonsense
A link between ALOX5AP and myocardial infarction and stroke
Low Akt levels might underlie schizophrenia
Familial iridogoniodysgenesis and skeletal anomalies
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism
Three new families with X-linked mental retardation caused by the 428–451 dup(24bp) mutation in ARX
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome
Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3
Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder