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Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish

Subjects: 0301 basic medicine; Models, Molecular; Vascular Endothelial Growth Factor A

  • Source: Human molecular genetics. 30(5)

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Disease Models & Mechanisms

Subjects: Technology; IPIP27A; Endocytic cycle

  • Source: Disease Models & Mechanisms, Vol 13, Iss 5 (2020)Disease Models & Mechanismsarticle-version (VoR) Version of RecordDisease models & mechanisms, 13 (5), Art. Nr.: dmm041913

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

Subjects: Male; lcsh:RC346-429; Craniofacial Abnormalities

  • Source: Molecular AutismMolecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)

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Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish

Subjects: 0301 basic medicine; Embryo, Nonmammalian; Organogenesis

  • Source: The American Journal of Pathology. 188:1043-1058

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Targeted knockout of a chemokine-like gene increases anxiety and fear responses

Subjects: Male; 0301 basic medicine; Candidate gene

  • Source: Proceedings of the National Academy of Sciences of the United States of America

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WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Subjects: 0301 basic medicine; Purmorphamine; WDR11

  • Source: EMBO Reports

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Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Subjects: 0301 basic medicine; Technology; lcsh:QH426-470

  • Source: Genes; Volume 7; Issue 11; Pages: 96Genes, Vol 7, Iss 11, p 96 (2016)Genes, 7 (11), Art. Nr.: 96Genes

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Subjects: Male; Adolescent; DNA Copy Number Variations

  • Source: Human Molecular Genetics. 22:1816-1825

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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Subjects: Male; medicine.medical_specialty; Kallmann syndrome

  • Source: The American Journal of Human Genetics. 83:511-519

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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Subjects: cleft-lip; Mutation, Missense; Neurexin

  • Source: The American Journal of Human Genetics. 82:199-207

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  • 1-10 of  13 results for ""Hyung-Goo Kim""