Works by Mamak, Eva


Results: 14
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    Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 6, p. 524, doi. 10.1111/cge.14207
    By:
    • Dvaladze, Anna;
    • Tavares, Erika;
    • Di Scipio, Matteo;
    • Nimmo, Graeme;
    • Grudzinska‐Pechhacker, Monika K.;
    • Paton, Tara;
    • Tumber, Anupreet;
    • Li, Shuning;
    • Eileen, Christabel;
    • Ertl‐Wagner, Birgit;
    • Mamak, Eva;
    • Hoffmann, Georg;
    • Marshall, Christian R.;
    • Haas, Dorothea;
    • Mayatepek, Ertan;
    • Schulze, Andreas;
    • Heon, Elise;
    • Vincent, Ajoy
    Publication type:
    Article
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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
    10

    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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    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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