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- 2001
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Mark
4 Primary immunodeficiency mutation databases
- Contribution to journal › Scientific review
-
Mark
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
- Contribution to journal › Article
-
Mark
The mutational spectrum of human malignant autosomal recessive osteopetrosis
- Contribution to journal › Article
- 2000
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Mark
Structural basis of bloom syndrome (BS) causing mutations in the BLM helicase domain
- Contribution to journal › Article
-
Mark
Structure-function effects in primary immunodeficiencies
- Contribution to journal › Scientific review
-
Mark
Immunodeficiency mutation databases
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
- 1999
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Mark
Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
- Contribution to journal › Article
