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1 |
Krawitz PM et al. |
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome .
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2 |
Kuusisto KM et al. |
Copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
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3 |
Peltonen S, Kankuri-Tammilehto M. |
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis.
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4 |
Rahikkala E et al. |
Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive features, heart defect and mental retardation .
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5 |
Saarinen S et al. |
Primary mediastinal large B-cell lymphoma sergegating in a family: exome sequencing identifies MLL as a candidate predisposition gene .
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6 |
Syvänen J et al. |
Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
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7 |
Tienari P et al. |
ALS:n ja frontotemporaalisen dementian yleisin geneettinen syy paljastunut.
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