Associated Papers
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N et al.
Molecular Genetics & Genomic Medicine, 2023
36468602 (PubMed )
Supplement: MGG3-11-e2109-s001.pdf
Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.
Torresani T et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.
Schneider A et al.
Gastroenterology, 2011
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 2005
Select a paper to view details