Works by Aziz-Ur-Rehman

Results: 245
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    A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6290620
    By:
    • Falkenstein, Kristina;
    • Hoeren, Lukas;
    • Kikul, Frauke;
    • Poschet, Gernot;
    • Lüchtenborg, Christian;
    • Brecht, Ines B.;
    • Falb, Ruth;
    • Gauck, Darja;
    • Haack, Tobias;
    • Hecker, Andreas;
    • Himmelreich, Nastassja;
    • Okun, Jürgen G.;
    • Brügger, Britta;
    • Thiel, Christian;
    • Aziz, Aziz ur Rehman.
    Publication type:
    Article
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    Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/3531508
    By:
    • Zanobio, Mariateresa;
    • Nardecchia, Francesca;
    • Cappuccio, Gerarda;
    • Onore, Maria Elena;
    • Di Letto, Pasquale;
    • Rahman, Sarah Iffat;
    • Terrone, Gaetano;
    • Ugga, Lorenzo;
    • De Giorgi, Agnese;
    • Cas, Michele Dei;
    • Trinchera, Marco;
    • Leuzzi, Vincenzo;
    • Piluso, Giulio;
    • Nigro, Vincenzo;
    • Brunetti-Pierri, Nicola;
    • Torella, Annalaura;
    • Aziz, Aziz ur Rehman
    Publication type:
    Article
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    High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6382674
    By:
    • Sedghi, Maryam;
    • Gharehdaghi, Elika Esmaeilzadeh;
    • Ziaee, Vahid;
    • Abbasi, Farzaneh;
    • Meybodi, Hamid Reza Aghaei;
    • Smiley, Elina;
    • Mehdizadeh, Mehrzad;
    • Raeeskarami, Seyyed Reza;
    • Aslani, Nahid;
    • Shiran, Sahar Naderi;
    • Vafadar, Mehdi;
    • Amoli, Mahsa M.;
    • Aziz, Aziz ur Rehman
    Publication type:
    Article
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    Islam and Human Psychology.

    Published in:
    Pakistan Journal of Commerce & Social Sciences, 2015, v. 9, n. 3, p. 1012
    By:
    • Qureshi, Raheela Khalid;
    • Aziz ur Rehman, Q. H.
    Publication type:
    Article
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