1501 – 1510 of 1912
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- 2006
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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
Statistical behavior of complex cancer karyotypes.
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- Contribution to journal › Scientific review
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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
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
Formation of der(19)t(1;19)(q23;p13) in acute lymphoblastic leukemia.
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- Contribution to journal › Article
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Mark
Orexin loss in Huntington's disease.
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- Contribution to journal › Article
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Mark
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
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- Contribution to journal › Article
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Mark
The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient {beta}-cell mass and exocytosis.
(
- Contribution to journal › Article