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57 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: karaer k. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
Rosti RO, Karaer K, Karaman B, Torun D, Guran S, Bahce M. Rosti RO, et al. Among authors: karaer k. Am J Med Genet A. 2013 Jul;161A(7):1737-42. doi: 10.1002/ajmg.a.35954. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686885
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoğlu S, Ekbote A, Aycan Z, Sağsak E, Danda S, Åström E, Mäkitie O. Pekkinen M, et al. Among authors: karaer k. Am J Med Genet A. 2017 Dec;173(12):3132-3135. doi: 10.1002/ajmg.a.38491. Epub 2017 Oct 21. Am J Med Genet A. 2017. PMID: 29055141 No abstract available.
Kept in Mind Infantile Neuroaxonal Dystrophy.
Karalok ZS, Taskin BD, Aydogmus U, Ceylaner S, Karaer K, Yilmaz C. Karalok ZS, et al. Among authors: karaer k. Genet Couns. 2016;27(2):279-82. Genet Couns. 2016. PMID: 29485838 No abstract available.
Novel mutation in SUCLA2 identified on sequencing analysis.
Güngör O, Özkaya AK, Güngör G, Karaer K, Dilber C, Aydin K. Güngör O, et al. Among authors: karaer k. Pediatr Int. 2016 Jul;58(7):659-61. doi: 10.1111/ped.12921. Epub 2016 Mar 8. Pediatr Int. 2016. PMID: 26952923
57 results