Works matching DE "RARE diseases"

Results: 5000
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    Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

    Published in:
    Clinical & Translational Medicine, 2025, v. 15, n. 7, p. 1, doi. 10.1002/ctm2.70401
    By:
    • Hwang, Soojin;
    • Seo, Go Hun;
    • Choi, In Hee;
    • Ryue, Seung‐Woo;
    • Oh, Ji Young;
    • Kim, Yoo‐Mi;
    • Eun, Baik‐Lin;
    • Byeon, Jung Hye;
    • Kang, Eugu;
    • Kim, Myungshin;
    • Kim, Hoon Seok;
    • Lee, Soyoung;
    • Kim, Han Wool;
    • Kim, Dohyung;
    • Khang, Rin;
    • Kim, Jihye;
    • Moon, Dongseok;
    • Jang, Seokhui;
    • Song, Yongjun;
    • Kim, Gu‐Hwan
    Publication type:
    Article
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    The Artificial Intelligence-Assisted Diagnosis of Skeletal Dysplasias in Pediatric Patients: A Comparative Benchmark Study of Large Language Models and a Clinical Expert Group.

    Published in:
    Genes, 2025, v. 16, n. 7, p. 762, doi. 10.3390/genes16070762
    By:
    • Ilić, Nikola;
    • Marić, Nina;
    • Cvetković, Dimitrije;
    • Bogosavljević, Marko;
    • Bukara-Radujković, Gordana;
    • Krstić, Jovana;
    • Paunović, Zoran;
    • Begović, Ninoslav;
    • Panić Zarić, Sanja;
    • Todorović, Slađana;
    • Mitrović, Katarina;
    • Vlahović, Aleksandar;
    • Sarajlija, Adrijan
    Publication type:
    Article
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    Risks and benefits of ChatGPT in informing patients and families with rare kidney diseases: an explorative assessment by the European Rare Kidney Disease Reference Network (ERKNet).

    Published in:
    Pediatric Nephrology, 2025, v. 40, n. 9, p. 2899, doi. 10.1007/s00467-025-06746-w
    By:
    • van Eerde, Albertien M.;
    • Teixeira, Ana;
    • Galletti, Flavia;
    • Maternik, Michal;
    • Capone, Valentina;
    • Westland, Rik;
    • Mulder, Jaap;
    • Halbritter, Jan;
    • Osterholt, Thomas;
    • Neukel, Valentina;
    • Weber, Lutz T.;
    • Liebau, Max C.;
    • Schaefer, Franz;
    • Kohl, Stefan
    Publication type:
    Article
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    Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

    Published in:
    Canadian Journal of Neurological Sciences, 2025, v. 52, n. 4, p. 596, doi. 10.1017/cjn.2024.335
    By:
    • Alshimemeri, Sohaila;
    • Alsaghan, Lamya;
    • Alsamh, Danah Abo;
    • Zhou, Lily;
    • Furtado, Sarah;
    • Kraft, Scott;
    • Bruno, Veronica;
    • Appel-Cresswell, Silke;
    • Duquette, Antoine;
    • Brais, Bernard;
    • Suchowersky, Oksana;
    • Slow, Elizabeth;
    • Munhoz, Renato P.
    Publication type:
    Article
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    MIS-C Ön Tanısı Konulan Çocukların Özellikleri: Kesin Tanı Nedir?

    Published in:
    Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi, 2025, v. 19, n. 2, p. 87, doi. 10.5578/ced.20250215
    By:
    • Özenen, Gizem Güner;
    • Kara, Aybüke Akaslan;
    • Şahinkaya, Arife Özer1Şahika;
    • Cem, Ela;
    • Çelebi, Miray Yılmaz;
    • Kaçar, Pelin;
    • Gülderen, Mustafa;
    • Ergün, Deniz;
    • Karabacak, Mustafa Doğan;
    • Devrim, Nuri Bayram1İlker
    Publication type:
    Article
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