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1994 1
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162 results

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Page 1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: alikasifoglu m. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. Guleray N, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2019 Nov;62(11):103585. doi: 10.1016/j.ejmg.2018.11.019. Epub 2018 Nov 27. Eur J Med Genet. 2019. PMID: 30496831
Transcriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expression.
Sag E, Imren G, Walle LV, Aydin EA, Bayindir Y, Cam V, Unal D, Emreol HE, Kısaarslan AP, Ozdel S, Basaran O, Karaosmanoglu B, Alikasifoglu M, Bilginer Y, Lamkanfi M, Taskiran EZ, Ozen S. Sag E, et al. Among authors: alikasifoglu m. Ann Rheum Dis. 2025 Nov;84(11):1928-1937. doi: 10.1016/j.ard.2025.08.001. Epub 2025 Aug 28. Ann Rheum Dis. 2025. PMID: 40883219
HERC1 mutations in idiopathic intellectual disability.
Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226
Reduced irisin levels in patients with acromegaly.
Sendur SN, Baykal G, Firlatan B, Aydin B, Lay I, Dagdelen S, Alikasifoglu M, Erbas T. Sendur SN, et al. Among authors: alikasifoglu m. Horm Mol Biol Clin Investig. 2022 Jul 19;43(3):251-261. doi: 10.1515/hmbci-2022-0009. eCollection 2022 Sep 1. Horm Mol Biol Clin Investig. 2022. PMID: 35851444
162 results