Works matching AU Mhanni, Aizeddin

Results: 28
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    Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    corrected article
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    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    Literature Review
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    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    journal article
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    A novel WFS1 variant associated with isolated congenital cataracts.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 1, p. 1, doi. 10.1101/mcs.a006259
    By:
    • Krutish, Angela;
    • Elmore, James;
    • Ilse, Werner;
    • Johnston, Janine L.;
    • Hittel, Dustin;
    • Kerr, Marina;
    • Khan, Aneal;
    • Rockman-Greenberg, Cheryl;
    • Mhanni, Aizeddin A.
    Publication type:
    Article
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    Isolated sulfite oxidase deficiency: a founder mutation.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900
    By:
    • Mhanni, Aizeddin A.;
    • Greenberg, Cheryl R.;
    • Spriggs, Elizabeth L.;
    • Agatep, Ronald;
    • Sisk, Reena Ray;
    • Prasad, Chitra
    Publication type:
    Article
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    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.

    Published in:
    2016
    By:
    • Karaceper, Maria D.;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Wilson, Kumanan;
    • Kronick, Jonathan B.;
    • Hawken, Steven;
    • Davies, Christine;
    • Brownell, Marni;
    • Dodds, Linda;
    • Feigenbaum, Annette;
    • Fell, Deshayne B.;
    • Grosse, Scott D.;
    • Guttmann, Astrid;
    • Laberge, Anne-Marie;
    • Mhanni, Aizeddin;
    • Miller, Fiona A.;
    • Mitchell, John J.;
    • Nakhla, Meranda;
    • Prasad, Chitra;
    • Rockman-Greenberg, Cheryl
    Publication type:
    journal article
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    Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Smith, Maureen;
    • Offringa, Martin;
    • Butcher, Nancy J.;
    • Campeau, Philippe M.;
    • Chakraborty, Pranesh;
    • Chan, Alicia;
    • Fergusson, Dean;
    • Mamak, Eva;
    • McClelland, Peyton;
    • Mercimek-Andrews, Saadet;
    • Mhanni, Aizeddin;
    • Moazin, Zeinab;
    • Rockman-Greenberg, Cheryl;
    • Rupar, C. Anthony
    Publication type:
    Article
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    Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

    Published in:
    2019
    By:
    • Karaceper, Maria D.;
    • Khangura, Sara D.;
    • Wilson, Kumanan;
    • Coyle, Doug;
    • Brownell, Marni;
    • Davies, Christine;
    • Dodds, Linda;
    • Feigenbaum, Annette;
    • Fell, Deshayne B.;
    • Grosse, Scott D.;
    • Guttmann, Astrid;
    • Hawken, Steven;
    • Hayeems, Robin Z.;
    • Kronick, Jonathan B.;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mhanni, Aizeddin;
    • Mitchell, John J.;
    • Nakhla, Meranda;
    • Potter, Murray
    Publication type:
    journal article
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