Study of Guillain-Barre syndrome etiology in Pakistani patients

by Rashid Iqbal, Muhammad Javaid Asad, Saima Siddiqi, Raja Tahir Mahmood, Muhamamd Baseer Shah
Published 2021-09-01

Antecedent infections, recent developments and future directions in Guillain-Barré syndrome

by Rashid Iqbal, Muhammad Javaid Asad, Raja Tahir Mahmood, Muhammad Basir Shah, Zahida Nawaz, Saima Siddiqi
Published 2022-12-01

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

by Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Published 2018-11-01

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

by Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Published 2019-04-01

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

by Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir
Published 2017-12-01

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

by Mehran Kausar, Mehran Kausar, Mehran Kausar, Elaine Guo Yan Chew, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Jia Nee Foo, Outi Makitie, Outi Makitie, Saima Siddiqi
Published 2019-03-01

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.

by 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
Published 2014-01-01

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

by Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar
Published 2014-01-01

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

by 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
Published 2022-08-01

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

by Ethiraj Ravindran, Ethiraj Ravindran, Ethiraj Ravindran, Noor Ullah, Noor Ullah, Shyamala Mani, Shyamala Mani, Shyamala Mani, Elaine Guo Yan Chew, Elaine Guo Yan Chew, Moses Tandiono, Moses Tandiono, Jia Nee Foo, Jia Nee Foo, Chiea Chuen Khor, Chiea Chuen Khor, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl, Saima Siddiqi
Published 2022-10-01

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

by Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
Published 2017-02-01