Lisätietoja julkaisusta saa klikkaamalla sen numeroa.
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1 |
Ignatius J. |
Suomalainen lääkäriseura Duodecim 1881-2006 II.
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2 |
Löppönen T et al. |
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
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3 |
Marttala J et al. |
False-negative results in routine combined first-trimester screening for down syndrome in Finland.
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4 |
Peippo M, Ignatius J. |
Pitt-Hopkins syndrome.
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5 |
Pohjola P et al. |
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
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6 |
Siggberg L et al. |
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.
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7 |
Tringham M et al. |
Exploring the transcriptomic variation caused by the finnish founder mutation of lysinuric protein intolerance (LPI).
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8 |
Willemsen MH et al. |
Update on Kleefstra Syndrome.
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