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hagar mor shaked[Author]
(47 results)?
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25.
J Med Genet. 2022.
PMID: 34172529
Free PMC article.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H.
Birnbaum R, et al. Among authors: mor shakad h.
J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504.
J Med Genet. 2024.
PMID: 37833060
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