"Pignatti, PF" . . "Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations"@en . . . "Cuppens, H." . . . "000261588800008" . "Dequeker, E." . "Scheffer, H." . . "Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations" . "1" . "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)." . "Witt, M." . "Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations"@en . "V" . . . "Girodon, E." . "Schwartz, M." . "Ferec, C." . "Des Georges, M." . "16"^^ . "Macek, Milan" . "Castellani, C." . "European Journal of Human Genetics" . . . . . . "15"^^ . "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 . . "1018-4813" . . . "RIV/00064203:_____/09:5126!RIV10-MZ0-00064203" . . "Claustres, M." . "RIV/00064203:_____/09:5126" . "17" . "304905" . "Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations" . "GB - Spojen\u00E9 kr\u00E1lovstv\u00ED Velk\u00E9 Brit\u00E1nie a Severn\u00EDho Irska" . . . . "Casals, T." . . "[B4A1F4C5C98E]" . "Morris, M. A." . . . "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 . . "Stuhrmann, M." . . . "1"^^ . . "Schwarz, M." .