Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

por Yousaf, Sairah, Tariq, Nabeela, Sajid, Zureesha, Sheikh, Shakeel A., Kausar, Tasleem, Waryah, Yar M., Shaikh, Rehan S., Waryah, Ali M., Sethna, Saumil, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2022

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

por Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2017

Genetic Causes of Oculocutaneous Albinism in Pakistani Population

por Sajid, Zureesha, Yousaf, Sairah, Waryah, Yar M., Mughal, Tauqeer A., Kausar, Tasleem, Shahzad, Mohsin, Rao, Ali R., Abbasi, Ansar A., Shaikh, Rehan S., Waryah, Ali M., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2021

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

por Sheikh, Shakeel A., Sisk, Robert A., Schiavon, Cara R., Waryah, Yar M., Usmani, Muhammad A., Steel, David H., Sayer, John A., Narsani, Ashok K., Hufnagel, Robert B., Riazuddin, Saima, Kahn, Richard A., Waryah, Ali M., Ahmed, Zubair M.
Publicado 2019