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

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan

por Rashid, Muhammad, Yousaf, Sairah, Sheikh, Shakeel A., Sajid, Zureesha, Shabbir, Asra S., Kausar, Tasleem, Tariq, Nabeela, Usman, Muhammad, Shaikh, Rehan S., Ali, Muhammad, Bukhari, Shazia A., Waryah, Ali M., Qasim, Muhammad, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2019

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