Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

por Al Tuwaijri, Abeer, Alyafee, Yusra, Alharbi, Mashael, Ballow, Maryam, Aldrees, Mohammed, Alam, Qamre, Sleiman, Rola A., Umair, Muhammad, Alfadhel, Majid
Publicado 2022

Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

por Alyafee, Yusra, Al Tuwaijri, Abeer, Alam, Qamre, Umair, Muhammad, Haddad, Shahad, Alharbi, Mashael, Ballow, Maryam, Al Drees, Mohammed, AlAbdulrahman, Abdulkareem, Al Khaldi, Aziza, Alfadhel, Majid
Publicado 2021

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

por Alyafee, Yusra, Al Tuwaijri, Abeer, Umair, Muhammad, Alharbi, Mashael, Haddad, Shahad, Ballow, Maryam, Alayyar, Latifah, Alam, Qamre, Althenayyan, Saleh, Al Ghilan, Nadia, Al Khaldi, Aziza, Faden, Majid S., Al Sufyan, Hamad, Alfadhel, Majid
Publicado 2022