Showing 1 - 15 results of 15 for search 'Hyung-Goo Kim (728597)', query time: 0.02s Refine Results
  1. 1
    Editorial for the IJMS Special Issue on “Molecular Genetics of Autism and Intellectual Disability”

    Editorial for the IJMS Special Issue on “Molecular Genetics of Autism and Intellectual Disability” by Hyung-Goo Kim (728597)

    Published 2023
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  2. 2
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism by Hyung-Goo Kim (728597)

    Published 2019
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  3. 3
    The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

    The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants by J. Graham Theisen (18618646)

    Published 2019
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  4. 4
    Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells

    Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells by Kyung Chul Shin (13913556)

    Published 2023
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  5. 5
    Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development

    Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development by Jiyoung Lee (41796)

    Published 2023
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  6. 6
    Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

    Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31 by Jonathan D. J. Labonne (18090841)

    Published 2020
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  7. 7
    Identification of two novel autism genes, <i>TRPC4</i> and <i>SCFD2</i>, in Qatar simplex families through exome sequencing

    Identification of two novel autism genes, <i>TRPC4</i> and <i>SCFD2</i>, in Qatar simplex families through exome sequencing by Vijay Gupta (209146)

    Published 2023
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  8. 8
    Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

    Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients by Julia Doll (5237840)

    Published 2020
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  9. 9
    Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers

    Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers by Houda Yasmine Ali Moussa (16078837)

    Published 2022
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  10. 10
    Single extracellular analysis using flow cytometry for neurological disorder biomarkers

    Single extracellular analysis using flow cytometry for neurological disorder biomarkers by Houda Yasmine Ali Moussa (15431071)

    Published 2023
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  11. 11
    A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

    A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndro... by Afif Ben-Mahmoud (13913550)

    Published 2023
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  12. 12
    Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

    Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development by Kristin M. Ates (18949450)

    Published 2020
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  13. 13
    A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

    A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders by Afif Ben-Mahmoud (13913550)

    Published 2022
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  14. 14
    Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

    Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families by Julia Doll (5237840)

    Published 2020
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  15. 15
    Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

    Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature by Richard H. van Jaarsveld (15112408)

    Published 2023
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