Works matching AU Prasad, Chitra

Results: 89
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    Ataxia-Telangiectasia: Atypical Presentation and Toxicity of Cancer Treatment.

    Published in:
    Canadian Journal of Neurological Sciences, 2009, v. 36, n. 4, p. 462, doi. 10.1017/S0317167100007794
    By:
    • Yanofsky, Rochelle A.;
    • Seshia, Sashi S.;
    • Dawson, Angelika J.;
    • Stobart, Kent;
    • Greenberg, Cheryl R.;
    • Booth, Frances A.;
    • Prasad, Chitra;
    • Del Bigio, Marc R.;
    • Wrogemann, Jens J.;
    • Fike, Francesca;
    • Gatti, Richard A.
    Publication type:
    Article
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    Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
    By:
    • Allen, James P;
    • Garber, Kathryn B;
    • Perszyk, Riley;
    • Khayat, Cara T;
    • Kell, Steven A;
    • Kaneko, Maki;
    • Quindipan, Catherine;
    • Saitta, Sulagna;
    • Ladda, Roger L;
    • Hewson, Stacy;
    • Inbar-Feigenberg, Michal;
    • Prasad, Chitra;
    • Prasad, Asuri N;
    • Olewiler, Leah;
    • Mu, Weiyi;
    • Rosenthal, Liana S;
    • Scala, Marcello;
    • Striano, Pasquale;
    • Zara, Federico;
    • McCullock, Tyler W
    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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    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

    Published in:
    2016
    By:
    • Siddiq, Shabnaz;
    • Wilson, Brenda J;
    • Graham, Ian D;
    • Lamoureux, Monica;
    • Khangura, Sara D;
    • Tingley, Kylie;
    • Tessier, Laure;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Dyack, Sarah;
    • Gillis, Jane;
    • Greenberg, Cheryl;
    • Hayeems, Robin Z;
    • Jain-Ghai, Shailly;
    • Kronick, Jonathan B;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J;
    • Prasad, Chitra;
    • Siriwardena, Komudi
    Publication type:
    journal article
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    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

    Published in:
    Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2
    By:
    • Siddiq, Shabnaz;
    • Wilson, Brenda J.;
    • Graham, Ian D.;
    • Lamoureux, Monica;
    • Khangura, Sara D.;
    • Tingley, Kylie;
    • Tessier, Laure;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Dyack, Sarah;
    • Gillis, Jane;
    • Greenberg, Cheryl;
    • Hayeems, Robin Z.;
    • Jain-Ghai, Shailly;
    • Kronick, Jonathan B.;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J.;
    • Prasad, Chitra;
    • Siriwardena, Komudi
    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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    CHARGE syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2006, v. 1, p. 34, doi. 10.1186/1750-1172-1-34
    By:
    • Blake, Kim D.;
    • Prasad, Chitra
    Publication type:
    Article
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    Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

    Published in:
    BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x
    By:
    • Khangura, Sara D.;
    • Karaceper, Maria D.;
    • Trakadis, Yannis;
    • Mitchell, John J.;
    • Chakraborty, Pranesh;
    • Tingley, Kylie;
    • Coyle, Doug;
    • Grosse, Scott D.;
    • Kronick, Jonathan B.;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Prasad, Chitra;
    • Sikora, Lindsey;
    • Siriwardena, Komudi;
    • Sparkes, Rebecca;
    • Speechley, Kathy N.;
    • Stockler, Sylvia;
    • Wilson, Brenda J.;
    • Wilson, Kumanan;
    • Zayed, Reem
    Publication type:
    Article
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    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1
    By:
    • Khangura, Sara;
    • Tingley, Kylie;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Kronick, Jonathan;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Miller, Fiona;
    • Mitchell, John;
    • Prasad, Chitra;
    • Siddiq, Shabnaz;
    • Siriwardena, Komudi;
    • Sparkes, Rebecca;
    • Speechley, Kathy;
    • Stockler, Sylvia;
    • Trakadis, Yannis;
    • Wilson, Brenda;
    • Wilson, Kumanan;
    • Potter, Beth
    Publication type:
    Article
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    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
    By:
    • Aref-Eshghi, Erfan;
    • Bend, Eric G.;
    • Hood, Rebecca L.;
    • Schenkel, Laila C.;
    • Carere, Deanna Alexis;
    • Chakrabarti, Rana;
    • Nagamani, Sandesh C. S.;
    • Cheung, Sau Wai;
    • Campeau, Philippe M.;
    • Prasad, Chitra;
    • Siu, Victoria Mok;
    • Brady, Lauren;
    • Tarnopolsky, Mark A.;
    • Callen, David J.;
    • Innes, A. Micheil;
    • White, Susan M.;
    • Meschino, Wendy S.;
    • Shuen, Andrew Y.;
    • Paré, Guillaume;
    • Bulman, Dennis E.
    Publication type:
    Article
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    Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

    Published in:
    Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
    By:
    • Chow, Andrea J.;
    • Pugliese, Michael;
    • Tessier, Laure A.;
    • Chakraborty, Pranesh;
    • Iverson, Ryan;
    • Coyle, Doug;
    • Kronick, Jonathan B.;
    • Wilson, Kumanan;
    • Hayeems, Robin;
    • Al-Hertani, Walla;
    • Inbar-Feigenberg, Michal;
    • Jain-Ghai, Shailly;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J.;
    • Prasad, Chitra;
    • Siriwardena, Komudi;
    • Sparkes, Rebecca;
    • Speechley, Kathy N.;
    • Stockler, Sylvia
    Publication type:
    Article
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