Hasil Pencarian - Saad Azim

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  1. 1
    A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

    A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. oleh Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E Shyong Tai, Gene W Yeo, Chiea Chuen Khor

    Diterbitkan 2014-01-01
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  2. 2
    Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

    Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds oleh Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi

    Diterbitkan 2022-08-01
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