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Results by year

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

Year Number of Results
1981 2
1982 1
1986 1
1988 2
1991 1
1992 5
1993 2
1998 1
1999 1
2005 3
2006 6
2007 4
2008 2
2010 1
2011 2
2012 2
2013 3
2014 4
2015 2
2019 2
2020 7
2021 6
2022 7
2023 4
2024 2

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PubMed for id: 862823

58 results

Results by year

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Page 1
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
Takagi M, Hoshino A, Bousset K, Röddecke J, Martin HL, Folcut I, Tomomasa D, Yang X, Kobayashi J, Sakata N, Yoshida K, Miyano S, Ogawa S, Kojima S, Morio T, Dörk T, Kanegane H. Takagi M, et al. J Clin Immunol. 2023 Nov;43(8):2136-2145. doi: 10.1007/s10875-023-01591-8. Epub 2023 Oct 5. J Clin Immunol. 2023. PMID: 37794136
Alström Syndrome with Early Vision and Hearing Impairement.
Beqiri-Jashari A, Janchevska A, Ahmeti I, Doksimovski F, Cipanovska M, Teov B, Stefanovska ES, Plaseska-Karanfilska D, Gucev Z. Beqiri-Jashari A, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2022 Jul 13;43(2):159-162. doi: 10.2478/prilozi-2022-0028. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2022. PMID: 35843912 Free article.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. Bögershausen N, et al. Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35790048
58 results