Muut medisiiniset TO5

Julkaisut 2013
Publications 2013

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

Julkaisutietokanta 12.9.2014 Publications Data Base 12.9.2014