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  1. 41
    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles by Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

    Published 2025-01-01
    Subjects: “…Rare diseases…”
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  2. 42
    Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics

    Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

    Published 2025-02-01
    Subjects: “…rare diseases…”
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  3. 43
    Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

    Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

    Published 2025-01-01
    Subjects: “…rare diseases…”
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