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Results by year

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

Year Number of Results
1973 2
1980 1
1982 3
1983 4
1984 6
1985 2
1986 5
1987 7
1988 9
1989 10
1990 7
1991 3
1992 9
1993 9
1994 11
1995 9
1996 8
1997 17
1998 14
1999 10
2000 14
2001 10
2002 5
2003 9
2004 9
2005 11
2006 14
2007 8
2008 10
2009 10
2010 6
2011 7
2012 7
2013 5
2014 7
2015 4
2016 3
2017 7
2018 5
2019 5
2020 9
2021 9
2022 8
2023 0
Text availability
Article attribute
Article type
Publication date

Search Results

307 results
Results by year
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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: shohat m. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Familial Mediterranean Fever.
Shohat M. Shohat M. 2000 Aug 8 [updated 2016 Dec 15]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Aug 8 [updated 2016 Dec 15]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301405 Free Books & Documents. Review.
Familial Mediterranean fever--a review.
Shohat M, Halpern GJ. Shohat M, et al. Genet Med. 2011 Jun;13(6):487-98. doi: 10.1097/GIM.0b013e3182060456. Genet Med. 2011. PMID: 21358337 Free article. Review.
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH. Egunsola AT, et al. Among authors: shohat m. J Clin Invest. 2017 Apr 3;127(4):1475-1484. doi: 10.1172/JCI90193. Epub 2017 Mar 6. J Clin Invest. 2017. PMID: 28263186 Free PMC article.
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Among authors: shohat m. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.
JAK2V617F Is a Risk Factor for TIA/Stroke in Young Patients.
Shapira Cohen T, Chodick G, Steinberg DM, Grossman E, Shohat M, Salomon O. Shapira Cohen T, et al. Among authors: shohat m. Thromb Haemost. 2022 Aug;122(8):1333-1340. doi: 10.1055/s-0042-1743470. Epub 2022 Mar 14. Thromb Haemost. 2022. PMID: 35288888
Grandparental genotyping enhances exome variant interpretation.
Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T. Daum H, et al. Among authors: shohat m. Am J Med Genet A. 2020 Apr;182(4):689-696. doi: 10.1002/ajmg.a.61511. Epub 2020 Feb 6. Am J Med Genet A. 2020. PMID: 32027463
[Lactic acidosis].
Shohat M, Nitzan M. Shohat M, et al. Harefuah. 1987 Nov 1;113(9):251-3. Harefuah. 1987. PMID: 3322985 Review. Hebrew. No abstract available.
307 results