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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 5
2005 1
2006 3
2007 4
2008 3
2009 1
2010 5
2011 5
2012 4
2013 5
2014 6
2015 4
2016 4
2017 6
2018 7
2019 10
2020 7
2021 1
2022 11
2023 12
2024 7

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103 results

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Page 1
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: birk os. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS. Yogev Y, et al. Among authors: birk os. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6. Proc Natl Acad Sci U S A. 2023. PMID: 36745799 Free PMC article.
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. Among authors: birk os. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Among authors: birk os. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R, Eskin-Schwartz M, Shorer Z, Kadir R, Halperin D, Drabkin M, Yogev Y, Aharoni S, Hadar N, Cohen H, Eremenko E, Perez Y, Birk OS. Proskorovski-Ohayon R, et al. Among authors: birk os. J Med Genet. 2024 Jan 31:jmg-2023-109447. doi: 10.1136/jmg-2023-109447. Online ahead of print. J Med Genet. 2024. PMID: 38296634
DEGS1 variant causes neurological disorder.
Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS. Dolgin V, et al. Among authors: birk os. Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186544 Free PMC article.
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, Cohen I, Geylis M, Nahum A, Yogev Y, Birk OS. Hadar N, et al. Among authors: birk os. Eur J Hum Genet. 2023 Oct;31(10):1101-1107. doi: 10.1038/s41431-022-01278-5. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599939
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Kristal E, Nahum A, Ling G, Broides A, Shubinsky G, Eskin-Schwartz M, Hadar N, Progador O, Birk O. Kristal E, et al. Among authors: birk o. Immunol Res. 2022 Dec;70(6):775-780. doi: 10.1007/s12026-022-09305-9. Epub 2022 Jul 1. Immunol Res. 2022. PMID: 35776314
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Drabkin M, Jean MM, Noy Y, Halperin D, Yogev Y, Wormser O, Proskorovski-Ohayon R, Dolgin V, Levaot N, Brumfeld V, Ovadia S, Kishner M, Kazenell U, Avraham KB, Shelef I, Birk OS. Drabkin M, et al. Among authors: birk os. J Med Genet. 2024 Jan 19;61(2):117-124. doi: 10.1136/jmg-2023-109264. J Med Genet. 2024. PMID: 37399313 Free PMC article.
103 results