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Sib-pairs in multifactorial disorders
Polyleucine repeats form aggregates and cause toxicity in mammalian cells
Developmental abnormalities and neurodegeneration in CREB deficient mice
New hope for treating Parkinson's disease
Genetic technologies, health care policy and the patent bargain
The TaqIB and −629C> A polymorphisms at the cholesteryl ester transfer protein locus
The association of cholesteryl ester transfer protein polymorphism with high-density lipoprotein cholesterol and coronary artery disease in Koreans
A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval
Fabry disease
Polymorphisms at the SRBI locus are associated with lipoprotein levels in subjects with heterozygous familial hypercholesterolemia
A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis
Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis
PROMM and deafness
A case of de novo distal duplication of chromosome 15
‘Severe’ Prader–Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation
XVIIIth EUROPEAN CONFERENCE ON PHILOSOPHY OF MEDICINE AND HEALTH CARE