论文信息 - Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis - 字舞流文

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

H. Williams | D. Curtis | K. Tory | G. Mollet | O. Gribouval | C. Antignac | T. Tulassay | M. Varga | Eszter Balogh | Renáta Hamar | P. Nürnberg | V. Kinsler | A. Perczel | A. Szabó | R. Kleta | D. Bockenhauer | H. Thiele | A. Waters | G. Toldi | F. Dragon | H. Stanescu | D. Menyhárd | M. Kaliakatsos | Susanne Motameny | G. Rudas | W. Di | M. Moosajee | W. Mifsud | A. Faro | D. Long | J. Koeglmeier | C. Arrondel | M. Kardos | K. Kelen | A. Fintha | K. Tomita | E. Jávorszky | M. Kolatsi-Joannou | G. Dorval | A. Kerti | Tomas Goncalves | E. Maka | G. Reusz | M. Tahoun | F. Sava | S. Marzouk | F. D’Arco | Marwa H. Saied | A. Hossain | J. Chandler | A. Szőcs | G. Schay | K. Perczel | R. Légrádi | Ákos Szekeres | Hafsa Hammid | Judit Götze | Máté Varga | Florentina Sava | Gusztáv G. Schay | Andrea Kerti