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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder by Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar
Published 2021-11-01
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Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients by Yar Muhammad Waryah, Muhammad Iqbal, Shakeel Ahmed Sheikh, Muhammad Azhar Baig, Ashok Kumar Narsani, Muhammad Atif, Munir Ahmad Bhinder, Attiq Ur Rahman, Azam Iqbal Memon, Muhammad Suleman Pirzado, Ali Muhammad Waryah
Published 2019-01-01
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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees by Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar
Published 2023-02-01
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