未登录Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks
Urgen, Buse M.; Topac, Yasemin; Ustun, F. Seyhun; Demirayak, Pinar; Oguz, Kader K.; Kansu, Tulay; Saygi, Serap; Ozcelik, Tayfun; Boyaci, Huseyin; Doerschner, Katj A.
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收藏Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor回复Tzoulis等人: 特发性震颤的遗传和临床异质性
Gulsuner, Hilal Unal; Gulsuner, Suleyman; Mercan, Fatma Nazli; Onat, Onur Emre; Walsh, Tom; Shahin, Hashem; Lee, Ming K.; Dogu, Okan; Kansu, Tulay; Topaloglu, Haluk; Elibol, Bulent; Akbostanci, Cenk; King, Mary-Claire; Ozcelik, Tayfun; Tekinay, Ayse B.
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收藏Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease线粒体丝氨酸蛋白酶HTRA2 p.G399S与特发性震颤和帕金森病
Gulsuner, Hilal Unal; Gulsuner, Suleyman; Mercan, Fatma Nazli; Onat, Onur Emre; Walsh, Tom; Shahin, Hashem; Lee, Ming K.; Dogu, Okan; Kansu, Tulay; Topaloglu, Haluk; Elibol, Bulent; Akbostanci, Cenk; King, Mary-Claire; Ozcelik, Tayfun; Tekinay, Ayse B.
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收藏Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner, Suleyman; Tekinay, Ayse Begum; Doerschner, Katja; Boyaci, Huseyin; Bilguvar, Kaya; Unal, Hilal; Ors, Aslihan; Onat, O. Emre; Atalar, Ergin; Basak, A. Nazli; Topaloglu, Haluk; Kansu, Tulay; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun
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收藏Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
Kaplan, Y.; Vargel, I.; Kansu, T.; Akin, B.; Rohmann, E.; Kamaci, S.; Uz, E.; Ozcelik, T.; Wollnik, B.; Akarsu, N. A.
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收藏Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
Bosley, TM; Salih, MAM; Jen, JC; Lin, DDM; Oystreck, D; Abu-Amero, KK; MacDonald, DB; al Zayed, Z; al Dhalaan, H; Kansu, T; Stigsby, B; Baloh, RW
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