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- 2006
-
Mark
BTKbase: the mutation database for X-linked agammaglobulinemia.
(
- Contribution to journal › Scientific review
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Mark
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
(
- Contribution to journal › Article
- 2005
-
Mark
The 5 ' Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
(
- Contribution to journal › Article
-
Mark
KinMutBase: a registry of disease-causing mutations in protein kinase domains.
(
- Contribution to journal › Article
- 2004
-
Mark
APECED-causing mutations in AIRE reveal the functional domains of the protein.
(
- Contribution to journal › Article
- 2003
-
Mark
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
(
- Contribution to journal › Article
-
Mark
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
(
- Contribution to journal › Article
- 2002
-
Mark
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
(
- Contribution to journal › Article
- 2001
-
Mark
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
(
- Contribution to journal › Article
- 2000
-
Mark
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
(
- Contribution to journal › Article