Works matching IS 17501172 AND DT 2024


Results: 457
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    An algorithm to identify patients aged 0–3 with rare genetic disorders.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9
    By:
    • Webb, Bryn D.;
    • Lau, Lisa Y.;
    • Tsevdos, Despina;
    • Shewcraft, Ryan A.;
    • Corrigan, David;
    • Shi, Lisong;
    • Lee, Seungwoo;
    • Tyler, Jonathan;
    • Li, Shilong;
    • Wang, Zichen;
    • Stolovitzky, Gustavo;
    • Edelmann, Lisa;
    • Chen, Rong;
    • Schadt, Eric E.;
    • Li, Li
    Publication type:
    Article
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    The socioeconomic epidemiology of inherited retinal diseases in Portugal.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03161-6
    By:
    • Marta, Ana;
    • Marques, João Pedro;
    • Santos, Cristina;
    • Coutinho-Santos, Luísa;
    • Vaz-Pereira, Sara;
    • Costa, José;
    • Arede, Pedro;
    • Félix, Raquel;
    • Geada, Sara;
    • Gouveia, Nuno;
    • Silva, Rui;
    • Baptista, Margarida;
    • Lume, Miguel;
    • Parreira, Ricardo;
    • Azevedo Soares, Célia;
    • Menéres, Maria João;
    • Lemos, Carolina;
    • Melo Beirão, João
    Publication type:
    Article
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    Genotype-phenotype associations in microtia: a systematic review.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03142-9
    By:
    • Wahdini, Siti Isya;
    • Idamatussilmi, Fina;
    • Pramanasari, Rachmaniar;
    • Prawoto, Almas Nur;
    • Wungu, Citrawati Dyah Kencono;
    • Putri, Indri Lakhsmi;
    • Gunadi
    Publication type:
    Article
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    Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03165-2
    By:
    • Emperador, Sonia;
    • Habbane, Mouna;
    • López-Gallardo, Ester;
    • del Rio, Alejandro;
    • Llobet, Laura;
    • Mateo, Javier;
    • Sanz-López, Ana María;
    • Fernández-García, María José;
    • Sánchez-Tocino, Hortensia;
    • Benbunan-Ferreiro, Sol;
    • Calabuig-Goena, María;
    • Narvaez-Palazón, Carlos;
    • Fernández-Vega, Beatriz;
    • González-Iglesias, Hector;
    • Urreizti, Roser;
    • Artuch, Rafael;
    • Pacheu-Grau, David;
    • Bayona-Bafaluy, Pilar;
    • Montoya, Julio;
    • Ruiz-Pesini, Eduardo
    Publication type:
    Article
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    Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.

    Published in:
    2024
    By:
    • Attarian, Shahram;
    • Young, Peter;
    • Brannagan, Thomas H.;
    • Adams, David;
    • Van Damme, Philip;
    • Thomas, Florian P.;
    • Casanovas, Carlos;
    • Kafaie, Jafar;
    • Tard, Céline;
    • Walter, Maggie C.;
    • Péréon, Yann;
    • Walk, David;
    • Stino, Amro;
    • de Visser, Marianne;
    • Verhamme, Camiel;
    • Amato, Anthony;
    • Carter, Gregory;
    • Magy, Laurent;
    • Statland, Jeffrey M.;
    • Felice, Kevin
    Publication type:
    Correction Notice
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    Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03140-x
    By:
    • Nowicki, Michał;
    • Bazan‑Socha, Stanisława;
    • Błażejewska‑Hyżorek, Beata;
    • Kłopotowski, Mariusz M.;
    • Komar, Monika;
    • Kusztal, Mariusz A.;
    • Liberek, Tomasz;
    • Małyszko, Jolanta;
    • Mizia‑Stec, Katarzyna;
    • Oko‑Sarnowska, Zofia;
    • Pawlaczyk, Krzysztof;
    • Podolec, Piotr;
    • Sławek, Jarosław
    Publication type:
    Article
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