Found: 3

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  • CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
    By:
    • Ernst, Michelle E.;
    • Baugh, Evan H.;
    • Thomas, Amanda;
    • Bier, Louise;
    • Lippa, Natalie;
    • Stong, Nicholas;
    • Mulhern, Maureen S.;
    • Kushary, Sulagna;
    • Akman, Cigdem I.;
    • Heinzen, Erin L.;
    • Yeh, Raymond;
    • Bi, Weimin;
    • Hanchard, Neil A.;
    • Burrage, Lindsay C.;
    • Leduc, Magalie S.;
    • Chong, Josephine S. C.;
    • Bend, Renee;
    • Lyons, Michael J.;
    • Lee, Jennifer A.;
    • Suwannarat, Pim
    Publication type:
    Article

  • Phenotypic Variability of SOCS1 Haploinsufficiency.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 902, doi. 10.1007/s10875-023-01460-4
    By:
    • Hale, Rebecca C.;
    • Owen, Nichole;
    • Yuan, Bo;
    • Chinn, Ivan K.;
    • Chong, Josephine S. C.;
    • Shiau, Henry H.;
    • Nicholas, Sarah Kogan;
    • Harpavat, Sanjiv
    Publication type:
    Article

  • Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.803088
    By:
    • Cao, Ye;
    • Luk, Ho Ming;
    • Zhang, Yanyan;
    • Chau, Matthew Hoi Kin;
    • Xue, Shuwen;
    • Cheng, Shirley S. W.;
    • Li, Albert Martin;
    • Chong, Josephine S. C.;
    • Leung, Tak Yeung;
    • Dong, Zirui;
    • Choy, Kwong Wai;
    • Lo, Ivan Fai Man
    Publication type:
    Article