检索结果 - Onur Emre Onat
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Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion 由 Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık
出版 2012Artigo -
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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred 由 Süleyman Gülsüner, Ayşe B. Tekinay, Katja Doerschner, Hüseyin Boyacı, Kaya Bilgüvar, Hilal Ünal, Aslihan Ors, Onur Emre Onat, Ergin Atalar, A. Nazlı Başak, Haluk Topaloğlu, Tülay Kansu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık
出版 2011Artigo -
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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease 由 Hilal Ünal Gülsüner, Süleyman Gülsüner, Fatma Nazlı Mercan, Onur Emre Onat, Tom Walsh, Hashem Shahin, Ming K. Lee, Okan Doğu, Tülay Kansu, Haluk Topaloğlu, Bülent Elibol, Cenk Akbostancı, Mary‐Claire King, Tayfun Özçelık, Ayşe B. Tekinay
出版 2014Artigo -
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The genetic structure of the Turkish population reveals high levels of variation and admixture 由 Meltem Ece Kars, A. Nazlı Başak, Onur Emre Onat, Kaya Bilgüvar, Jungmin Choi, Yuval Itan, Caner Çağlar, Robin Palvadeau, Jean‐Laurent Casanova, D.N. Cooper, Peter D. Stenson, Alper Yavuz, Hakan Buluş, Murat Günel, Jeffrey M. Friedman, Tayfun Özçelık
出版 2021Artigo -
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Human CRY1 variants associate with attention deficit/hyperactivity disorder 由 Onur Emre Onat, Meltem Ece Kars, Şeref Gül, Kaya Bilgüvar, Yiming Wu, Ayşe Özhan, Cihan Aydın, A. Nazlı Başak, Maria Allegra Trusso, Arianna Goracci, Chiara Fallerini, Alessandra Renieri, Jean‐Laurent Casanova, Yuval Itan, Cem Atbaşoğlu, Meram Can Saka, İbrahim Halil Kavaklı, Tayfun Özçelık
出版 2020Artigo
相关主题
Biology
Genetics
Gene
Medicine
Neuroscience
Cerebellum
Exome sequencing
Mutation
Phenotype
Population
Cerebellar hypoplasia (non-human)
Circadian rhythm
Disease gene identification
Environmental health
Internal medicine
Allele
Anatomy
Anxiety
Astrophysics
Ataxia
Attention deficit hyperactivity disorder
Bacterial circadian rhythms
CLOCK
Cerebellar ataxia
Circadian clock
Cognition
Cohort
Dark therapy
Delayed sleep phase
Demography