Cook Children's Health Care System
Hospital
Location:
Fort Worth, TX,
United States (USA) (US)
ISNI: -
ROR: https://ror.org/01ktvbq32
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Journal article
Clinical delineation of the PACS1-related syndrome - Report on 19 patients (2016)
Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, et al.
Journal article, Report