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1 |
Ahmed M et al. |
Kiputunnon puuttuminen, hikoilukyvyttömyys ja maitohampaiden ennenaikainen menetys harvinaisen neuropatian merkkeinä.
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2 |
Autti-Rämö I et al. |
Expanding screening for rare metabolic disease in the newborn: An analysis of costs, effect and ethical consequences for decision-marking in Finland.
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3 |
Bergmann C et al. |
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
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4 |
Hackman P et al. |
Enrichment of the R77C alfa-sarcoglycan gene mutation in Finnish LGMD2D patients.
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5 |
Hakonen AH et al. |
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin.
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6 |
Hannula-Jouppi K et al. |
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.
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7 |
Hietala M et al. |
Luuta väärässä paikassa väärään aikaan - fibrodysplasia ossificans progressiva.
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8 |
Juvonen V et al. |
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
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9 |
Kalliokoski RJ et al. |
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease.
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10 |
Kääriäinen H et al. |
Medically assisted reproduction and ethical challenges.
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11 |
Lehtinen E, Kääriäinen H. |
Doctor`s expertise and managing discrepant information from other sources in genetic counseling: A conversation analytic perspective.
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12 |
Liljeström B et al. |
Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.
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13 |
Olsen JH et al. |
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
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14 |
Tahvanainen E et al. |
Polycystic liver and kidney diseases.
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15 |
Zweier C et al. |
Clinical and mutational spectrum of Mowat-Wilson syndrome.
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