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

Year Number of Results
1997 2
1998 2
1999 2
2000 5
2001 5
2002 9
2003 8
2004 4
2005 14
2006 6
2007 6
2008 6
2009 8
2010 7
2011 5
2012 6
2013 11
2014 8
2015 8
2016 6
2017 6
2018 4
2019 4
2020 7
2021 12
2022 5
2023 2
2024 5
2025 0

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151 results

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Page 1
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.
Fadiloglu E, Ozten G, Unal C, Talim B, Topaloglu H, Beksac MS. Fadiloglu E, et al. Among authors: talim b. Fetal Pediatr Pathol. 2018 Dec;37(6):418-423. doi: 10.1080/15513815.2018.1520944. Epub 2018 Oct 25. Fetal Pediatr Pathol. 2018. PMID: 30358464
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: talim b. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
Lissencephaly type II.
Topaloğlu H, Talim B. Topaloğlu H, et al. Among authors: talim b. Handb Clin Neurol. 2008;87:219-34. doi: 10.1016/S0072-9752(07)87014-X. Handb Clin Neurol. 2008. PMID: 18809028 No abstract available.
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.
Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). Schoser B, et al. Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. Neuromuscul Disord. 2015. PMID: 25998612 No abstract available.
151 results