Perinnöllisyyspoliklinikka

Julkaisut 2007
Publications 2007

Lisätietoja julkaisusta saa klikkaamalla sen numeroa.
For full details, please click the number in front of the publication.


1 Aktan-Collan K et al. Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.
2 Botzenhart EM et al. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
3 Liljeström B et al. Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood.
4 Müller JS et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
5 Niinikoski H et al. Tyypin IX glykogenoosi - suuren maksan harvinainen syy lapsella.
6 Nyrhinen T et al. Privacy and equality in diagnostic genetic testing.
7 Nyrhinen T et al. Consequences as ethical issues in diagnostic genetic testing - a comparison of the perceptions of patients/parents and personnel.
8 Pylkäs K et al. Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
9 Vuorela P et al. Molecular analysis of the CHD7 gene in CHARGE syndrome: indentification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Julkaisutietokanta 22.10.2008 Publications Data Base 22.10.2008