Rentas, Stefan

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