Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

por Schuster, Jens, Khan, Tahir Naeem, Tariq, Muhammad, Shaiq, Pakeeza Arzoo, Mäbert, Katrin, Baig, Shahid Mahmood, Klar, Joakim
Publicado 2014

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

por Khan, Tahir Naeem, Klar, Joakim, Nawaz, Sadia, Jameel, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Baig, Shahid M, Dahl, Niklas
Publicado 2012

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

por Raykova, Doroteya, Klar, Joakim, Azhar, Aysha, Khan, Tahir Naeem, Malik, Naveed Altaf, Iqbal, Muhammad, Tariq, Muhammad, Baig, Shahid Mahmood, Dahl, Niklas
Publicado 2014

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

por Liu, Chunyu, Ajmal, Muhammad, Akram, Zaineb, Ghafoor, Tariq, Farhan, Muhammad, Shafique, Sobia, Wahid, Sughra, Bano, Shahar, Xiao, Jianqiu, Satti, Humayoon Shafique, Zhang, Feng, Khan, Tahir Naeem
Publicado 2021