Jimann Shin

Instructor in Developmental Biology

    • 1935 Citations
    20002020

    Research output per year

    If you made any changes in Pure these will be visible here soon.

    Fingerprint Dive into the research topics where Jimann Shin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

    • 10 Similar Profiles

    Network Recent external collaboration on country level. Dive into details by clicking on the dots.

    Research Output

    • 1935 Citations
    • 31 Article
    • 1 Comment/debate

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

    Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

    Research output: Contribution to journalArticle

  • 3 Scopus citations
    Open Access
  • 2 Scopus citations

    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

    Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

    Research output: Contribution to journalArticle

  • 6 Scopus citations