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

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

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

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

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

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