Perinnöllisyyspoliklinikka

Julkaisut 2010
Publications 2010

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1 Jaakkola E et al. ERCC6 founder mutation identified in Finnish patients with COFS syndrome.
2 Nissi R et al. Hereditary isolated metatarsophalangeal arthritis.
3 Penttinen M, Hietala M. Lastentaudit ja periytyminen.
4 Pohjola P et al. Terminal 3p deletions in two families-correlation between molecular karyotype and phenotype.
5 Schara U et al. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
6 Siggberg L et al. Array CGH in molecular diagnosis of mental retardation - A study of 150 finnish patients.
7 Vahteristo P et al. No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

Julkaisutietokanta 24.8.2011 Publications Data Base 24.8.2011