Last Posted: Jun 30, 2020
- Cystic Fibrosis
CDC, June 2020 - Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders.
Young Elizabeth et al. The Journal of molecular diagnostics : JMD 2020 Jun - Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis.
Barreda Christina B et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun - Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu Thierry et al. Genes 2020 Jun 11(6) - Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
Laudus Nele et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun - National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
Sasaki Erina et al. European journal of human genetics : EJHG 2020 Jun - Provision of information on transplantation to cystic fibrosis patients and their relatives: Overview of French practices and recommendations.
David V et al. Respiratory medicine and research 2020 Jan 7779-88 - The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
Scotet Virginie et al. Genes 2020 May 11(6) - Breaking the diagnosis of cystic fibrosis to parents: A process not a one-off event.
Bryon Mandy et al. Paediatric respiratory reviews 2020 Apr - Review of the sweat test indications in a Brussels' cystic fibrosis reference center.
Bensliman Safae et al. Annales de biologie clinique 2019 Dec 77(6) 687-692
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