Search Results - Alexander Ing

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  1. 1
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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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  2. 2
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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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  3. 3
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    Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals Autoría: Anne M. McRae, Jaime Duncan, Andy Drackley, Alexander Ing, Valerie Allegretti, Carolyn R. Raski, Angelique Mercier, Carlos E. Prada, Sarah Jurgensmeyer

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  4. 4
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    Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis Autoría: Kunal Kanwar, Saffiya Bashey, Brenda L. Bohnsack, Andy Drackley, Alexander Ing, Safa Rahmani, Hantamalala Ralay Ranaivo, Patrick McMullen, Andrew Skol, Kailee Yap, Valerie Allegretti, Jennifer L. Rossen

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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