In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis

Por Raza, Syed Irfan, Muhammad, Dost, Jan, Abid, Ali, Raja Hussain, Hassan, Mubashir, Ahmad, Wasim, Rashid, Sajid
Publicado em 2014

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Por Mir, Hina, Raza, Syed Irfan, Touseef, Muhammad, Memon, Mazhar Mustafa, Khan, Muhammad Nasim, Jaffar, Sulman, Ahmad, Wasim
Publicado em 2014

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

Por Ansar, Muhammad, Raza, Syed Irfan, Lee, Kwanghyuk, Irfanullah, Shahi, Shamim, Acharya, Anushree, Dai, Hang, Smith, Joshua D, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Santos-Cortez, Regie Lyn P, Ahmad, Wasim, Leal, Suzanne M
Publicado no J Med Genet (2015)

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Por Santos-Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Ansar, Muhammad, Wang, Xin, Morell, Robert J., Isaacson, Rivka, Belyantseva, Inna A., Dai, Hang, Acharya, Anushree, Qaiser, Tanveer A., Muhammad, Dost, Ali, Rana Amjad, Shams, Sulaiman, Hassan, Muhammad Jawad, Shahzad, Shaheen, Raza, Syed Irfan, Bashir, Zil-e-Huma, Smith, Joshua D., Nickerson, Deborah A., Bamshad, Michael J., Riazuddin, Sheikh, Ahmad, Wasim, Friedman, Thomas B., Leal, Suzanne M.
Publicado no Am J Hum Genet (2016)