Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 05 2020
- 927-936 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0741-5 doi
Cell Cycle Proteins--genetics De Lange Syndrome--diagnosis Humans Neurodevelopmental Disorders--diagnosis Nuclear Proteins Phenotype Sequence Analysis, RNA Transcription Factors