Works by Penttinen, Maila
Results: 12
Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 36, doi. 10.1007/s00439-001-0642-x
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- Article
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
- Published in:
- 1999
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- Publication type:
- journal article
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476
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- Article
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.33
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- Article
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
- Published in:
- Human Mutation, 1997, v. 9, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5
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- Article
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170
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- Article
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
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- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640
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- Article
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 3, p. 354, doi. 10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.0.CO;2-A
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- Article
Detection of the founder effect in Finnish CADASIL families.
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- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 813, doi. 10.1038/sj.ejhg.5201221
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- Article
Structural and functional changes in peripheral vasculature of Fabry patients.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 660, doi. 10.1007/s10545-006-0340-x
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- Article
Ring chromosome 20 mosaicism in a girl with complex partial seizures.
- Published in:
- 1994
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- Publication type:
- journal article
Early ultrasound diagnosis of fetal intracranial tumors.
- Published in:
- 1994
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- Publication type:
- journal article