Lisätietoja julkaisusta saa klikkaamalla sen numeroa.
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1 |
Arvio MA et al. |
Dysmorphic facial features in aspartylglucosaminuria patients and carriers.
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2 |
Davila S et al. |
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
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3 |
Drenth JP et al. |
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
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4 |
Kääriäinen H. |
Lastentaudit ja periytyminen.
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5 |
Kääriäinen H. |
Genetiikalla enemmän terveyttä.
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6 |
Laine P et al. |
Lakrimo-aurikulo-dento-digitaalinen (LADD) -oireyhtymä lapsen kuivan suun aiheuttajana.
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7 |
Löppönen T et al. |
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75 -Cys mutation in procollagen type II gene (COL2A1).
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8 |
Mykkänen K et al. |
Detection of the founder effect in Finnish CADASIL families.
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9 |
Nyrhinen T et al. |
Ethical issues in the diagnostic genetic testing process.
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10 |
Penttinen M. |
Äitiys ja harvinainen sairaus.
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11 |
Penttinen M et al. |
Fabryn tauti ja suositus sen diagnostiikasta, seurannasta ja hoitolinjoista Suomessa.
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12 |
Pöyhönen MH et al. |
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
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13 |
Raas-Rothschild A et al. |
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
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14 |
Tahvanainen E et al. |
Perinnöllisen polykystisen maksataudin geenitausta selviämässä.
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15 |
Veugelers M et al. |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
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16 |
Zerres K et al. |
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
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