학술논문
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Document Type
Short Communication
Author
Deutsch, Konstantin; Klämbt, Verena; Kitzler, Thomas M.; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A.; Hafeez, Farkhanda; Szczepańska, Maria; Eid, Loai A.; Awad, Hazem S.; Al-Saffar, Muna; Soliman, Neveen A.; Tasic, Velibor; Nicolas-Frank, Camille; Yousef, Kirollos; Schierbaum, Luca M.; Schneider, Sophia; Halawi, Abdul; Elmubarak, Izzeldin; Lemberg, Katharina; Shril, Shirlee; Mane, Shrikant M.; Rodig, Nancy; Hildebrandt, Friedhelm
Source
In Genes & Diseases August 2023
Subject
Language
ISSN
2352-3042