Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
Makaleler > Tam Makale · 2026
Yazarlar: Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi, Jlenia Monfregola, Karine Duroure, Malo Serafini, François Kroll, Océane El-hage, Somaya Salah, Osama M. Atawneh, Tahir ATİK, Enise AVCI DURMUŞALİOĞLU, Esra IŞIK, Naif A.M. Almontashiri, Brahim Tabarki, Moien Kanaan, Grace Rabie, Annalaura Torella, Carmine Spampanato, Domenica Immacolata Battaglia, Anais Begemann, Katharina Steindl, Anita Rauch, Markus Zweier, Mj Hajianpour, Karlla W. Brigatti, Amal Alhashem, Reza Maroofian, Eva Feigerlova, Laetitia Lambert, Francois Feillet, Mary-Alice Abbott, Alfonso Manuel D’Alessio, Claudia Gonzaga-Jauregui, Marcel Tawk, Maria Antonietta De Matteis, Filippo Del Bene, Marcella Zollino, Vincenzo Nigro, Rossella Venditti, Brunella Franco, Manuela Morleo
The American Journal of Human Genetics, Uluslararası, Wos, 2026, cilt 113, ss 562-581