Showing 1 - 4 results of 4 for search 'Stephen F. Pastore', query time: 0.03s Refine Results
  1. 1
    Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt <i>N</i>-Glycosylation and Reduce Protein Stability

    Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt <i>N</i>-Glycosylation and Reduce Protein Stability by Connie T. Y. Xie, Stephen F. Pastore, John B. Vincent, Paul W. Frankland, Paul A. Hamel

    Published 2024-01-01
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  2. 2
    <i>PTCHD1</i>: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene

    <i>PTCHD1</i>: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene by Stephen F. Pastore, Sangyoon Y. Ko, Paul W. Frankland, Paul A. Hamel, John B. Vincent

    Published 2022-03-01
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  3. 3
    Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence

    Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence by Stephen F. Pastore, Tahir Muhammad, Cassandra Stan, Paul W. Frankland, Paul A. Hamel, John B. Vincent

    Published 2023-11-01
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  4. 4
    Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

    Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14 by Stephen F. Pastore, Tahir Muhammad, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B. Vincent

    Published 2021-11-01
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