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2018 1
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2020 2
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2022 1
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Page 1
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, Pourkeramti A, Dehghani B, Shao DD, Markus-Bustani K, Sofrin-Drucker E, Orenstein N, Salayev K, Arrigoni F, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: sofrin drucker e. Ann Clin Transl Neurol. 2022 Jul;9(7):1080-1089. doi: 10.1002/acn3.51602. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684946 Free PMC article.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Among authors: sofrin drucker e. Hum Genet. 2019 Oct;138(10):1145-1153. doi: 10.1007/s00439-019-02048-y. Epub 2019 Jul 18. Hum Genet. 2019. PMID: 31321490 Review.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Castle AMR, Salian S, Bassan H, Sofrin-Drucker E, Cusmai R, Herman KC, Heron D, Keren B, Johnstone DL, Mears W, Morlot S, Nguyen TTM, Rock R, Stolerman E, Russo J, Burns WB, Jones JR, Serpieri V, Wallaschek H, Zanni G, Dyment DA, Campeau PM. Castle AMR, et al. Among authors: sofrin drucker e. Neurol Genet. 2021 Oct 21;7(6):e631. doi: 10.1212/NXG.0000000000000631. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34703884 Free PMC article.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, Koifman A, Fellner A, Reches A, Marom D, Behar DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I. Michaelson-Cohen R, et al. Among authors: sofrin drucker e. Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 3. Genet Med. 2020. PMID: 32616942 Free article.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: sofrin drucker e. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.
The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes.
Lebenthal Y, Levy S, Sofrin-Drucker E, Nagelberg N, Weintrob N, Shalitin S, de Vries L, Tenenbaum A, Phillip M, Lazar L. Lebenthal Y, et al. Among authors: sofrin drucker e. Front Endocrinol (Lausanne). 2018 Feb 9;9:27. doi: 10.3389/fendo.2018.00027. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29479339 Free PMC article.