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- 2010
-
Mark
Bedside Diagnosis of Rippling Muscle Disease in Cav3 P.A46T Mutation Carriers
- 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
-
Mark
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
- Contribution to journal › Article
-
Mark
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
- Contribution to journal › Article
-
Mark
Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis
- Contribution to journal › Article
- 2009
-
Mark
The barley magnesium chelatase 150-kd subunit is not an abscisic acid receptor
- Contribution to journal › Article
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Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
- Contribution to journal › Article
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Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
- Contribution to journal › Scientific review
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Mark
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
- Contribution to journal › Article
-
Mark
PPARdelta mediates IL15 metabolic actions in myotubes : effects of hyperthermia
- Contribution to journal › Article
