Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder by Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel

Get full text

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay by Abdulaziz Asiri, Essra Aloyouni, Muhammad Umair, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M. Alhamoudi, Bader Almuzzaini, Abeer Al Baz, Deemah Alwadaani, Marwan Nashabat, Majid Alfadhel

Get full text

Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features by Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni, Mariam Ballow, Mohammed Aldrees, Abdulkareem Al Abdulrahman, Abeer Al Tuwaijri, Safdar Abbas, Muhammad Umair, Majid Alfadhel

Get full text

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome) by Majid Alfadhel, Bashayr S. Alhubayshi, Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa S. Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan

Get full text