Perinnöllisyyspoliklinikka

Julkaisut 2009
Publications 2009

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1 Koski TA et al. Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
2 Mykkänen K et al. Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.
3 Nellist M et al. Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
4 Nyrhinen T et al. Are patient rights to information and self-determination in diagnostic genetic testing upheld? A comparison of patients' and providers' perceptions.
5 Penttinen M et al. Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.
6 Uusimaa J et al. Genetiikan nykymahdollisuudet epilepsian diagnostiikassa .

Julkaisutietokanta 26.8.2010 Publications Data Base 26.8.2010