Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis.
Al-Qahtani W et al.
Journal of Proteome Research, 2020
32312052 (PubMed )
Supplement: pr0c00031_si_001.pdf
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Oud MS et al.
Human Mutation, 2017
Outcomes of a cystic fibrosis carrier testing clinic for couples.
Christie LM et al.
The Medical Journal of Australia, 2009
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0
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