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- 2003
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Mark
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
(
- Contribution to journal › Article
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Mark
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
(
- Contribution to journal › Article
- 2002
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Mark
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
(
- Contribution to journal › Article
- 2001
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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
- 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
- 1998
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Mark
Novel Missense Mutation (P131R) in the HMG Box of SRY in XY Sex Reversal
(
- Contribution to journal › Debate/Note/Editorial
- 1997
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Mark
Registries of immunodeficiency patients and mutations
(
- Contribution to journal › Scientific review