Search Results - Ruqaiah Altassan

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  1. 1

    Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders by Ruqaiah Altassan, Stephanie Fox, Chantal Poulin, Daniela Buhas

    Published in Molecular Genetics and Metabolism Reports (2018-06-01)
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  2. 2

    Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG) by Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

    Published in JIMD Reports (2023-03-01)
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  3. 3

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Published in JIMD Reports (2020-01-01)
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  4. 4

    POLG-related disorders: Clinical and molecular Spectrum in the Saudi population by Fuad Al Mutairi, Faisal Joueidi, Ziyad A. Al Mutairi, Maha Alshalan, Wafaa Eyaid, Aziza M. Mushiba, Malak AlGhamdi, Brahim Tabarki, Abdulaziz AlGhamdi, Ruqaiah AlTassan, Hamad Alzaidan, Abubakar Sharif, Hesham Aldhalaan, Muhammad Umair, Majid Alfadhel

    Published in Molecular Genetics and Metabolism Reports (2026-06-01)
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  5. 5

    Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseHuman biallelic OSMR deficiency by Simran Samra, Mehul Sharma, Julia Körholz, Yihui Liu, Alyssa James, Christina Michalski, Pariya Yousefi, Kate L. Del Bel, Henry Y. Lu, Ashish A. Sharma, Maja Tarailo-Graovac, Joshua Dalmann, Lily Buder, Bhavi Modi, Ralf Wiedemuth, Liam Golding, Britt Drögemöller, Géraldine Blanchard-Rohner, Christof Senger, Wingfield Rehmus, Julie S. Prendiville, Massimo Mangino, Colin J. Ross, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Sergio D. Rosenzweig, Julie Niemela, Pascal M. Lavoie, P. M. Prathibha, Oliver Wegehaupt, Catherine M. Biggs, Michael Boehnke, Leena Kinnunen, Heikki A. Koistinen, Margaret L. McKinnon, Jonas Maximillian Breuer, Jana Schönenkorb, Robert Brock, Sarah Thull, Christian Netzer, Clara Velmans, Norah Altuwaijri, Issam R. Hamadah, Ruqaiah Altassan, Ahmed Alfares, Sateesh Maddirevula, Siddaramappa Jagdish Patil, Diana K. Bayer, Jonathan J. Lyons, Stuart E. Turvey

    Published in Journal of Human Immunity (2026-05-01)
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