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- 2002
-
Mark
Dual function of the tRNA(m(5)U54)methyltransferase in tRNA maturation
(
- Contribution to journal › Article
- 2001
-
Mark
Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies
2001)(
- Thesis › Doctoral thesis (compilation)
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Mark
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
(
- Contribution to journal › Article
-
Mark
Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia
(
- Contribution to journal › Debate/Note/Editorial
- 2000
-
Mark
Sunscreen use and malignant melanoma
(
- Contribution to journal › Article
-
Mark
p53-mediated differentiation of the erythroleukemia cell line K562
(
- Contribution to journal › Article
- 1999
-
Mark
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
(
- Contribution to journal › Article
-
Mark
Thrombophilia as a multigenic disease
(
- Contribution to journal › Article
- 1998
-
Mark
The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein
(
- Contribution to journal › Article
-
Mark
MEN1 gene mutations in 12 MEN1 families and their associated tumors
(
- Contribution to journal › Article