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- 2023
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Contribution to journal › Article
- 2022
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
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- Contribution to journal › Article
- 2019
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Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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- Contribution to journal › Article
- 2016
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
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- Contribution to journal › Article
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Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
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- Contribution to journal › Article
- 2015
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Mark
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
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- Contribution to journal › Article
- 2013
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Mark
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits
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- Contribution to journal › Article
- 2012
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Mark
Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase.
(
- Contribution to journal › Article
- 2010
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Mark
Hundreds of variants clustered in genomic loci and biological pathways affect human height
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- Contribution to journal › Article
- 1999
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Mark
Bacillus subtilis contains two small c-type cytochromes with homologous heme-domains but different types of membrane-anchors
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- Contribution to journal › Article