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Description
| - The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000).
- The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). (en)
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Title
| - Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations (en)
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skos:prefLabel
| - Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations (en)
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skos:notation
| - RIV/00064203:_____/09:5126!RIV10-MZ0-00064203
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00064203:_____/09:5126
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - guidelines; recommendations; genetic testing; cystic fibrosis; CFTR; CFTR-related disorders; transmembrane conductance regulator; fetal echogenic bowel; congenital absence; vas-deferens; uniparental disomy; disseminated bronchiectasis; obstructive azoospermia; genomic rearrangements; bayesian-analysis; risk-assessment (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - European Journal of Human Genetics
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Casals, T.
- Claustres, M.
- Ferec, C.
- Cuppens, H.
- Macek, Milan
- Castellani, C.
- Girodon, E.
- Pignatti, PF
- Schwarz, M.
- Stuhrmann, M.
- Dequeker, E.
- Scheffer, H.
- Des Georges, M.
- Morris, M. A.
- Schwartz, M.
- Witt, M.
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http://linked.open...ain/vavai/riv/wos
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issn
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number of pages
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is http://linked.open...avai/riv/vysledek
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