Search Results - Merlene Peter

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    Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia Autoría: Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E. Prada, Kai Lee Yap

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalo... Autoría: Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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