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

Year Number of Results
2001 1
2002 3
2003 5
2005 1
2006 3
2007 2
2008 2
2009 4
2012 2
2013 1
2014 1
2016 1
2017 2
2018 3
2019 1
2020 1
2021 4
2022 2
2023 2
2024 0

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38 results

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Page 1
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, … See abstract for full author list ➔ Vollstedt EJ, et al. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Frequency of frontotemporal dementia-related gene variants in Turkey.
Artan S, Erzurumluoglu Gokalp E, Samanci B, Ozbabalik Adapinar D, Bas H, Tepgec F, Qomi Ekenel E, Cilingir O, Bilgic B, Gurvit H, Hanagasi HA, Kocagil S, Durak Aras B, Uyguner O, Emre M. Artan S, et al. Among authors: uyguner o. Neurobiol Aging. 2021 Oct;106:332.e1-332.e11. doi: 10.1016/j.neurobiolaging.2021.05.007. Epub 2021 May 23. Neurobiol Aging. 2021. PMID: 34162492
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.
Guven G, Samanci B, Gulec C, Hanagasi H, Gurvit H, Gokalp EE, Tepgec F, Guler S, Uyguner O, Bilgic B. Guven G, et al. Among authors: uyguner o. Neurol Sci. 2021 Jun;42(6):2497-2504. doi: 10.1007/s10072-021-05243-w. Epub 2021 Apr 15. Neurol Sci. 2021. PMID: 33855622
ALX4 dysfunction disrupts craniofacial and epidermal development.
Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. Kayserili H, et al. Among authors: uyguner o. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug 19. Hum Mol Genet. 2009. PMID: 19692347
ALX4 related parietal foramina mimicking encephalocele in prenatal period.
Saraç Sivrikoz T, Altunoglu U, Kalelioglu İH, Yüksel A, Uyguner OZ, Has R, Kayserili H. Saraç Sivrikoz T, et al. Among authors: uyguner oz. Prenat Diagn. 2016 Jun;36(6):591-3. doi: 10.1002/pd.4826. Epub 2016 May 17. Prenat Diagn. 2016. PMID: 27080046 No abstract available.
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. Among authors: uyguner o. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: uyguner o. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574
38 results