Søgeresultater - Ansar, Muhammad
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A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family af Basit, Sulman, Naqvi, Syed Kamran-ul-Hassan, Wasif, Naveed, Ali, Ghazanfar, Ansar, Muhammad, Ahmad, Wasim
Udgivet 2008Text -
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A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability af Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Udgivet 2011Text -
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A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis af Rafiq, Muhammad Arshad, Ansar, Muhammad, Mahmood, Saqib, Haque, Sayedul, Faiyaz-ul-Haque, Muhammad, Leal, Suzanne M., Ahmad, Wasim
Udgivet 2004Text -
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Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan af Ansar, Muhammad, Ramzan, Mohammad, Pham, Thanh L., Yan, Kai, Jamal, Syed Muhammad, Haque, Sayedul, Ahmad, Wasim, Leal, Suzanne M.
Udgivet 2003Text -
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree af Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Udgivet 2016Text -
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Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan af Pedurupillay, Christeen Ramane J., Landsend, Erlend Christoffer Sommer, Vigeland, Magnus Dehli, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter
Udgivet 2016Text