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pro vyhledávání: '"Isabelle M. Genereux"'
Autor:
Anna Castano, Margaux Silvestre, Carrow I Wells, Jennifer L Sanderson, Carla A Ferrer, Han Wee Ong, Yi Lang, William Richardson, Josie A Silvaroli, Frances M Bashore, Jeffery L Smith, Isabelle M Genereux, Kelvin Dempster, David H Drewry, Navlot S Pabla, Alex N Bullock, Tim A Benke, Sila K Ultanir, Alison D Axtman
Publikováno v:
eLife, Vol 12 (2023)
Pathological loss-of-function mutations in cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disorder associated with severe and medically refractory early-life epilepsy, motor, cogniti
Externí odkaz:
https://doaj.org/article/1bf476386b1149818536f2b15c6067c9
