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1 |
Ahvenainen T et al. |
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
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2 |
Hartell N et al. |
Miksi lapseni kävelee kuin ankka?
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3 |
Knuutila S et al. |
Molekyylikaryotyypitys kehitysvammaisuuden diagnostiikassa.
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4 |
Koskenvuo JW et al. |
Twenty-four-month alfa-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
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5 |
Laaksonen SM et al. |
Neuropathic symptoms and findings in women with Fabry disease.
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6 |
Rantanen E et al. |
What is ideal genetic counselling? A survey of current international guidelines.
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7 |
Rantanen E et al. |
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
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8 |
Vuorela PE et al. |
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
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