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- 2005
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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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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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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
Prevalence estimates of recurrent balanced cytogenetic aberrations and gene fusions in unselected patients with neoplastic disorders.
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- Contribution to journal › Article
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Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.
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- Contribution to journal › Article
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Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma
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- Contribution to journal › Article
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Gene Transfer to Repopulating Human CD34(+) Cells Using Amphotropic-, GALV-, or RD114-Pseudotyped HIV-1-Based Vectors from Stable Producer Cells.
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- Contribution to journal › Article
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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
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Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.
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- Contribution to journal › Article