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- 2011
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Mark
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
(
- Contribution to journal › Article
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Mark
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells
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- Contribution to journal › Article
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Mark
The transcription factor EMISSION OF BENZENOIDS II activates the MYB ODORANT1 promoter at a MYB binding site specific for fragrant petunias
(
- Contribution to journal › Article
- 2010
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Mark
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
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- Contribution to journal › Article
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Mark
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
(
- Contribution to journal › Article
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Mark
Bedside Diagnosis of Rippling Muscle Disease in Cav3 P.A46T Mutation Carriers
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- Contribution to journal › Article
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Mark
Novel APC-cleavage sites in FVa providing insights into mechanisms of action of APC and its cofactor protein S.
(
- Contribution to journal › Article
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Mark
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
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- Contribution to journal › Article
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Mark
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
(
- Contribution to journal › Article
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Mark
Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis
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- Contribution to journal › Article