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- 2018
-
Mark
Representativeness of variation benchmark datasets
(
- Contribution to journal › Article
- 2016
-
Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
- 2015
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Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
- 2014
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
- 2013
-
Mark
VariBench: A Benchmark Database for Variations
(
- Contribution to journal › Article
- 2010
-
Mark
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
(
- Contribution to journal › Article
- 2009
-
Mark
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
(
- Contribution to journal › Scientific review
- 2004
-
Mark
APECED-causing mutations in AIRE reveal the functional domains of the protein.
(
- Contribution to journal › Article
- 1998
-
Mark
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
(
- Contribution to journal › Article
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