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

Year Number of Results
2001 1
2002 4
2003 3
2004 4
2005 4
2006 2
2007 3
2008 4
2009 3
2010 4
2011 2
2012 6
2013 8
2014 8
2015 10
2016 6
2017 9
2018 3
2019 7
2020 5
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82 results
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Page 1
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G. Beecroft SJ, et al. Among authors: Haliloglu G. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5. Neuromuscul Disord. 2017. PMID: 28554554
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: Haliloglu G. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G. Todd EJ, et al. Among authors: Haliloglu G. Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0. Orphanet J Rare Dis. 2015. PMID: 26578207 Free PMC article.
Challenges in pediatric chronic inflammatory demyelinating polyneuropathy.
Haliloğlu G, Yüksel D, Temoçin CM, Topaloğlu H. Haliloğlu G, et al. Neuromuscul Disord. 2016 Dec;26(12):817-824. doi: 10.1016/j.nmd.2016.09.016. Epub 2016 Sep 22. Neuromuscul Disord. 2016. PMID: 27793469
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Yiş U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloğlu G, Polat Aİ, Ayanoğlu M, Okur D, Tosun AF, Serdaroğlu G, Yilmaz S, Topaloğlu H, Anlar B, Cirak S, Engel AG. Yiş U, et al. Among authors: Haliloglu G. J Child Neurol. 2017 Jul;32(8):759-765. doi: 10.1177/0883073817705252. Epub 2017 May 3. J Child Neurol. 2017. PMID: 28464723 Free PMC article.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F. Ravenscroft G, et al. Among authors: Haliloglu G. Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320. Hum Mol Genet. 2018. PMID: 30215711 Free PMC article.
Clinical and molecular evaluation of 16 patients with Rett syndrome.
Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Zengin-Akkuş P, et al. Among authors: Haliloglu G. Turk J Pediatr. 2018;60(1):1-9. doi: 10.24953/turkjped.2018.01.001. Turk J Pediatr. 2018. PMID: 30102473 Free article.
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