A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

por Ibrahim, Nazia, Naz, Shagufta, Mattioli, Francesca, Guex, Nicolas, Sharif, Saima, Iqbal, Afia, Ansar, Muhammad, Reymond, Alexandre
Publicado 2023

Correction: Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

por Iqbal, Afia, Naz, Shagufta, Kaul, Haiba, Sharif, Saima, Khushbakht, Aysha, Naeem, Muhammad Asif, Iqtedar, Mehwish, Kaleem, Afshan, Firasat, Sabika, Manzoor, Farkhanda
Publicado 2023

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

por Iqbal, Afia, Naz, Shagufta, Kaul, Haiba, Sharif, Saima, Khushbakht, Aysha, Naeem, Muhammad Asif, Iqtedar, Mehwish, Kaleem, Afshan, Firasat, Sabika, Manzoor, Farkhanda
Publicado 2022

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

por Rao, Ali Raza, Nazir, Aamir, Imtiaz, Samina, Paracha, Sohail Aziz, Waryah, Yar Muhammad, Ujjan, Ikram Din, Anwar, Ijaz, Iqbal, Afia, Santoni, Federico A., Shah, Inayat, Gul, Khitab, Baig, Hafiz Muhammad Azhar, Waryah, Ali Muhammad, Antonarakis, Stylianos E., Ansar, Muhammad
Publicado 2023