Works matching DE "DEVELOPMENTAL delay"


Results: 2413
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    Barth Sendromlu Olgumuz.

    Published in:
    Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 112
    By:
    • Kara, İlknur Sürücü;
    • Hopurcuoğlu, Duhan;
    • Kara, Esra
    Publication type:
    Article
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    Akut Pürülan Perikardit Olgusu.

    Published in:
    Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 107
    By:
    • Akarsu, Türkan;
    • Akın, Aylin Ceren;
    • Murt, Begüm;
    • Yılmaz, Mehmet Mustafa;
    • Günay, Fatih;
    • Binici, Murat;
    • Ramoğlu, Mehmet Gökhan;
    • Uçar, Tayfun
    Publication type:
    Article
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    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Serie de casos de fenilcetonuria clásica en Ecuador.

    Published in:
    Revista Mexicana de Pediatria, 2024, v. 91, n. 1, p. 24, doi. 10.35366/118505
    By:
    • Herrera-Jaramillo, María Isabel;
    • Tello-Herrera, María Gabriela;
    • Tello-Herrera, María Belén;
    • Alarcón-Flores, María José
    Publication type:
    Article
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    The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance.

    Published in:
    European Radiology, 2023, v. 33, n. 1, p. 196, doi. 10.1007/s00330-022-09036-3
    By:
    • Rutten, Caroline;
    • Fillon, Ludovic;
    • Kuchenbuch, Mathieu;
    • Saitovitch, Ana;
    • Boisgontier, Jennifer;
    • Chemaly, Nicole;
    • Breuillard, Delphine;
    • Ouss, Lisa;
    • Dangouloff-Ros, Volodia;
    • Blauwblomme, Thomas;
    • Zilbovicius, Monica;
    • Nabbout, Rima;
    • Boddaert, Nathalie
    Publication type:
    Article
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    MECP2 mutáció fiúgyermekben.

    Published in:
    Gyermekgyógyászat, 2024, v. 75, n. 4, p. 277
    By:
    • Mária, Szegner Laura;
    • Noémi, Benedek;
    • Ágnes, Till;
    • Katalin, Hollódy
    Publication type:
    Article
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