Clinical and molecular spectrum of CHOPS syndrome
Sarah E. Raible(Children's Hospital of Philadelphia), Kosuke Izumi(Children's Hospital of Philadelphia)
Cited by 37
Related Papers
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases
|The Journal of Pediatrics|2022|7
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
|npj Genomic Medicine|2024|6
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
|Proceedings of the National Academy of Sciences|2024|6
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
|Genetics in Medicine|2024|3
Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulation
|bioRxiv (Cold Spring Harbor Laboratory)|2019|2