학술논문
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Document Type
Journal
Author
Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L.; Liang, Robin A.; Abdel-Hamid, Mohamed S.; Sultan, Tipu; Baroy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S.; Zaki, Maha S.; Severino, Mariasavina; Duru, Kingsley C.; Tryon, Robert C.; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M.; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Eric; Nichols, Colin G.; Smeland, Marie F.; Mcclenaghan, Conor
Source
Subject
Language
English
ISSN
14602156