1521 – 1530 of 1935
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- 2006
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Mark
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
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- Contribution to journal › Article
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Mark
Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.
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- Contribution to journal › Article
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Mark
ECA Permanent working group for cytogenetics and society: Cytogenetic guidelines and quality assurance. A common framework for quality assessment for constitutional and acquired cytogenetic investigations
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- Contribution to journal › Article
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Mark
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
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- Contribution to journal › Article
- 2005
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Mark
Clear cell hidradenoma of the skin - a third tumor type with a t(11;19)-associated TORC1-MAML2 gene fusion
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- Contribution to journal › Article
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Mark
Detecting Deletions in Families Affected by a Dominant Disease by Use of Marker Data.
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- Contribution to journal › Article
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Mark
Statistical behavior of complex cancer karyotypes.
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- Contribution to journal › Scientific review
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Mark
Telomere-mediated mitotic disturbances in immortalized ovarian epithelial cells reproduce chromosomal losses and breakpoints from ovarian carcinoma
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- Contribution to journal › Article
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Mark
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
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- Contribution to journal › Article
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Mark
Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19.
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- Contribution to journal › Article