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Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria et al (show 14 more authors)
(2022)
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ GENOMIC MEDICINE, 7 (1).
60-.
Eiseler, Katharina, Neppl, Lea, Schmidt, Andreas W, Rauscher, Beate, Ewers, Maren ORCID: 0000-0002-9029-2240, Masson, Emmanuelle ORCID: 0000-0001-9777-523X, Chen, Jian-Min ORCID: 0000-0002-2424-3969, Férec, Claude, Rebours, Vinciane, Grammatikopoulos, Tassos ORCID: 0000-0002-0174-4787 et al (show 10 more authors)
(2023)
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 23 (8).
pp. 957-963.