Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findi...

por Alfadhel, Majid, Almuntashri, Makki, Jadah, Raafat H, Bashiri, Fahad A, Al Rifai, Muhammad Talal, Al Shalaan, Hisham, Al Balwi, Mohammed, Al Rumayan, Ahmed, Eyaid, Wafaa, Al-Twaijri, Waleed
Publicado 2013

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

por Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicado 2017