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

Year Number of Results
1987 1
1988 1
1989 1
1990 1
1991 2
1993 12
1994 2
1995 4
1996 10
1997 7
1998 7
1999 2
2000 5
2001 8
2002 7
2003 5
2004 4
2005 6
2006 6
2007 8
2008 3
2009 4
2010 1
2011 5
2012 4
2013 5
2014 6
2015 5
2016 9
2017 10
2018 3
2019 3
2020 6
2021 5
2022 3
2023 1
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160 results
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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Crow YJ, et al. Among authors: straussberg r. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Infant Botulism, Israel, 2007-2021.
Goldberg B, Danino D, Levinsky Y, Levy I, Straussberg R, Dabaja-Younis H, Guri A, Almagor Y, Tasher D, Elad D, Baider Z, Blum S, Scheuerman O. Goldberg B, et al. Among authors: straussberg r. Emerg Infect Dis. 2023 Feb;29(2):235-241. doi: 10.3201/eid2902.220991. Emerg Infect Dis. 2023. PMID: 36692296 Free article. Review.
Embedded earrings.
Cohen HA, Nussinovitch M, Straussberg R. Cohen HA, et al. Among authors: straussberg r. Cutis. 1994 Feb;53(2):82. Cutis. 1994. PMID: 7851126
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: straussberg r. 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.
A Rare Presentation of Postpump Hemichorea.
Gavish R, Straussberg R. Gavish R, et al. Among authors: straussberg r. Isr Med Assoc J. 2019 Apr;21(4):286-287. Isr Med Assoc J. 2019. PMID: 31032575 Free article. No abstract available.
Melkersson-Rosenthal syndrome.
Cohen HA, Cohen Z, Ashkenasi A, Straussberg R, Frydman M, Kauschansky A, Varsano I. Cohen HA, et al. Among authors: straussberg r. Cutis. 1994 Nov;54(5):327-8. Cutis. 1994. PMID: 7835060
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Ambrozkiewicz MC, Borisova E, Schwark M, Ripamonti S, Schaub T, Smorodchenko A, Weber AI, Rhee HJ, Altas B, Yilmaz R, Mueller S, Piepkorn L, Horan ST, Straussberg R, Zaqout S, Jahn O, Dere E, Rosário M, Boehm-Sturm P, Borck G, Willig KI, Rhee J, Tarabykin V, Kawabe H. Ambrozkiewicz MC, et al. Among authors: straussberg r. Mol Psychiatry. 2021 Jun;26(6):1980-1995. doi: 10.1038/s41380-020-0714-8. Epub 2020 Apr 6. Mol Psychiatry. 2021. PMID: 32249816
160 results