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 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 2014

Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

por Acharya, Anushree, Raza, Syed Irfan, Anwar, Muhammad Zeeshan, Bharadwaj, Thashi, Liaqat, Khurram, Khokhar, Muhammad Akram Shahzad, Everard, Jenna L., Nasir, Abdul, Nickerson, Deborah A., Bamshad, Michael J., Ansar, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2021

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

por Acharya, Anushree, Raza, Syed Irfan, Anwar, Muhammad Zeeshan, Bharadwaj, Thashi, Liaqat, Khurram, Khokhar, Muhammad Akram Shahzad, Everard, Jenna L., Nasir, Abdul, Nickerson, Deborah A., Bamshad, Michael J., Ansar, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2021