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- 2008
-
Mark
Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.
(
- Contribution to journal › Article
- 2007
-
Mark
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations
(
- Contribution to journal › Article
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Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article
- 2006
-
Mark
Handy book on cancer genetics risk assessment
(
- Contribution to journal › Review (Book/Film/Exhibition/etc.)
- 2005
-
Mark
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
(
- Contribution to journal › Article
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Mark
Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.
(
- Contribution to journal › Article
- 2004
-
Mark
Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile
(
- Contribution to journal › Article
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Mark
An excess of chromosome 1 breakpoints in male infertility.
(
- Contribution to journal › Article
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Mark
1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
(
- Contribution to journal › Letter
- 2003
-
Mark
Population genetic screening programmes: technical, social, and ethical issues.
(
- Contribution to journal › Article