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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F09%3A5126%21RIV10-MZ0-00064203
rdf:type
n8:Vysledek skos:Concept
dcterms: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).
dcterms: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
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
skos:notation
RIV/00064203:_____/09:5126!RIV10-MZ0-00064203
n3:aktivita
n14:V
n3:aktivity
V
n3:cisloPeriodika
1
n3:dodaniDat
n10:2010
n3:domaciTvurceVysledku
n11:3879615
n3:druhVysledku
n7:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
304905
n3:idVysledku
RIV/00064203:_____/09:5126
n3:jazykVysledku
n6:eng
n3: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
n3:klicoveSlovo
n4:bayesian-analysis n4:genetic%20testing n4:risk-assessment n4:congenital%20absence n4:fetal%20echogenic%20bowel n4:disseminated%20bronchiectasis n4:obstructive%20azoospermia n4:recommendations n4:cystic%20fibrosis n4:genomic%20rearrangements n4:transmembrane%20conductance%20regulator n4:uniparental%20disomy n4:CFTR-related%20disorders n4:guidelines n4:CFTR n4:vas-deferens
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[B4A1F4C5C98E]
n3:nazevZdroje
European Journal of Human Genetics
n3:obor
n15:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
16
n3:rokUplatneniVysledku
n10:2009
n3:svazekPeriodika
17
n3:tvurceVysledku
Pignatti, PF Cuppens, H. Dequeker, E. Scheffer, H. Witt, M. Girodon, E. Schwartz, M. Ferec, C. Des Georges, M. Macek, Milan Castellani, C. Claustres, M. Casals, T. Morris, M. A. Stuhrmann, M. Schwarz, M.
n3:wos
000261588800008
s:issn
1018-4813
s:numberOfPages
15