Výsledky vyhledávání - "E, Tahvanainen"

Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium

Autor: J, Kolehmainen, R, Norio, S, Kivitie-Kallio, E, Tahvanainen, A, de la Chapelle, A E, Lehesjoki

Publikováno v: European Journal of Human Genetics. 5:206-213

The Cohen syndrome is a rare autosomal recessively inherited disorder. Contrary to many case reports published elsewhere, the phenotype is uniform in Finland including nonprogressive mental and motor retardation, typical dysmorphic features, granuloc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514f0e658b97e7ed98ad4a673977ac0
https://doi.org/10.1159/000484765

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Remote reading and data management system for kWh meters with power quality monitoring

Autor: P. Koponen, E. Tahvanainen, T. Lindholm, H. Saari

Publikováno v: Saari, H, Koponen, P, Tahvanainen, R & Lindholm, T 1996, ' Remote reading and data management system for kWh-meters with power quality monitoring ', Power Engineering Journal, vol. 10, no. 4, pp. 164-168 . https://doi.org/10.1049/pe:19960407
Saari, H, Koponen, P, Tahvanainen, E & Lindholm, T 1996, Remote reading and data management system for kWh-meters with power quality monitoring . in Eighth International Conference on Metering and Tariffs for Energy Supply . Institution of Engineering and Technology IET, IEE Conference Publication, pp. 11-15, 8th International Conference on Meeting and Tariffs for Electricity Supply, IEE MATES'96, Brighton, United Kingdom, 3/07/96 . https://doi.org/10.1049/cp:19960468

A new remote reading system for kWh meters has been developed because new requirements have emerged. The amount of data to be collected and processed is increasing with the number of remote readable meters. Data from the meter reading system must be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd56edb479bc2443eac1035dfc21170
https://doi.org/10.1049/pe:19960407

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Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland

Autor: H, Forsius, M, Damsten, A W, Eriksson, J, Fellman, S, Lindh, E, Tahvanainen

Publikováno v: Acta ophthalmologica Scandinavica. 76(2)

To review the literature of autosomal recessive cornea plana (RCP) and to perform a clinical and genetic study on this disorder in Finland. The 78 Finnish RCP patients represent the majority of RCP cases worldwide; outside Finland only 35 cases have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e1abf686b1a5d62fcd830103ea8d82b5
https://pubmed.ncbi.nlm.nih.gov/9591953

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Hepatic lipase gene polymorphisms influence plasma HDL levels. Results from Finnish EARS participants. European Atherosclerosis Research Study

Autor: S, Murtomäki, E, Tahvanainen, M, Antikainen, L, Tiret, V, Nicaud, H, Jansen, C, Ehnholm

Publikováno v: Arteriosclerosis, thrombosis, and vascular biology. 17(10)

Hepatic lipase (HL), a triglyceride lipase found in liver, adrenals, testes, and ovaries, takes part in the uptake, remodeling, and function of lipoproteins including HDL, as well as VLDL and chylomicrons. In the present study, the genotype distribut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d16392556fb4990917670951f4eaeae
https://pubmed.ncbi.nlm.nih.gov/9351349

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Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

Autor: L, Huopaniemi, A, Rantala, E, Tahvanainen, A, de la Chapelle, T, Alitalo

Publikováno v: American journal of human genetics. 60(5)

X-linked juvenile retinoschisis (RS) is a recessively inherited disorder resulting in poor visual acuity. Affected males typically show retinal degeneration and intraretinal splitting. The prevalence of RS is 1:15,000-1:30,000. Elsewhere we have mapp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f90ce9a4f8d5aa029084699a3366ae1
https://pubmed.ncbi.nlm.nih.gov/9150161

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