Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR

por Trujillano, Daniel, Weiss, Maximilian E R, Köster, Julia, Papachristos, Efstathios B, Werber, Martin, Kandaswamy, Krishna Kumar, Marais, Anett, Eichler, Sabrina, Creed, Jenny, Baysal, Erol, Jaber, Iqbal Yousuf, Mehaney, Dina Ahmed, Farra, Chantal, Rolfs, Arndt
Publicado 2015

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