نتائج البحث - Kaya Bilgüvar

تنقيح النتائج
  1. 1
    Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development

    Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development حسب S. Nishimura, Kaya Bilgüvar, Keiko Ishigame, Nenad Šestan, Murat Günel, Angeliki Louvi

    منشور في 2015
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  2. 2
    Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

    Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion حسب Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık

    منشور في 2012
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  3. 3
    Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk

    Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk حسب Giovanni Zito, Ichiko Saotome, Zongzhi Liu, Enrico G. Ferro, Thomas Sun, Don X. Nguyen, Kaya Bilgüvar, Christine J. Ko, Valentina Greco

    منشور في 2014
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  4. 4
    COL4A1 Mutation in Preterm Intraventricular Hemorrhage

    COL4A1 Mutation in Preterm Intraventricular Hemorrhage حسب Kaya Bilgüvar, Michael L. DiLuna, Matthew J. Bizzarro, Yaşar Bayri, Karen Schneider, Richard P. Lifton, Murat Günel, Laura R. Ment

    منشور في 2009
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  5. 5
    <i>ACOX2</i> deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

    <i>ACOX2</i> deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment حسب Sílvia Vilarinho, Sinan Sarı, Francesca Mazzacuva, Kaya Bilgüvar, Güldal Esendağlı‐Yılmaz, Dhanpat Jain, Gülen Akyol, Buket Dalgıç, Murat Günel, Peter T. Clayton, Richard P. Lifton

    منشور في 2016
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  6. 6
    Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

    Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia حسب Lynn M. Boyden, Brittany G. Craiglow, Jing Zhou, Rong‐Hua Hu, Erin Loring, Kimberly D. Morel, Christine T. Lauren, Richard P. Lifton, Kaya Bilgüvar, Amy S. Paller, Keith A. Choate

    منشور في 2014
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  7. 7
    Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

    Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations حسب Sílvia Vilarinho, E. Zeynep Erson‐Omay, Akdes Serin Harmancı, Raffaella Morotti, Geneive Carrión-Grant, Jacob F. Baranoski, A. S. Knisely, Udeme D. Ekong, Sukru Emre, Katsuhito Yasuno, Kaya Bilgüvar, Murat Günel

    منشور في 2014
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  8. 8
    Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma

    Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma حسب Mark Bi, Siming Zhao, Jonathan W. Said, Maria J. Merino, Adebowale Adeniran, Zuoquan Xie, Cayce Nawaf, Jaehyuk Choi, Arie S. Belldegrun, Allan J. Pantuck, Harriet M. Kluger, Kaya Bilgüvar, Richard P. Lifton, Brian Shuch

    منشور في 2016
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  9. 9
    Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

    Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred حسب 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

    منشور في 2011
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  10. 10
    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities حسب Farid Radmanesh, Ahmet Okay Çağlayan, Jennifer L. Silhavy, Cahide Yılmaz, Vincent Cantagrel, Tarek Omar, Başak Rosti, Hande Kaymakçalan, Stacey Gabriel, Mingfeng Li, Nenad Šestan, Kaya Bilgüvar, William B. Dobyns, Maha S. Zaki, Murat Günel, Joseph G. Gleeson

    منشور في 2013
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  11. 11
    NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

    NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy حسب Ahmet Okay Çağlayan, Sinan Çomu, Jacob F. Baranoski, Yeşim Parman, Hande Kaymakçalan, Gozde Akgumus, Caner Çağlar, Duygu Dölen, Emine Zeynep Erson-Omay, Akdes Serin Harmancı, Ketu Mishra-Gorur, Hudson H. Freeze, Katsuhito Yasuno, Kaya Bilgüvar, Murat Günel

    منشور في 2014
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  12. 12
    De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

    De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis حسب Andrew T. Timberlake, Charuta G. Furey, Jungmin Choi, Carol Nelson‐Williams, Erin Loring, Amy Galm, Kristopher T. Kahle, Derek M. Steinbacher, Dawid Larysz, John A. Persing, Richard P. Lifton, Kaya Bilgüvar, Shrikant Mane, Irina Tikhonova, Christopher Castaldi, James Knight

    منشور في 2017
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  13. 13
    Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans

    Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans حسب Jinah Han, Charles‐Félix Calvo, Tae Hyuk Kang, Kasey L. Baker, June-Hee Park, Carlos Parras, Marine Levittas, Ulrick Birba, Laurence Pibouin-Fragner, P Frágner, Kaya Bilgüvar, Ronald S. Duman, Harri Nurmi, Kari Alitalo, Anne Eichmann, Jean‐Léon Thomas

    منشور في 2015
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  14. 14
    The genetic structure of the Turkish population reveals high levels of variation and admixture

    The genetic structure of the Turkish population reveals high levels of variation and admixture حسب 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

    منشور في 2021
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  15. 15
    Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

    Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice حسب Jae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, Huafeng Wang, Shabir Hussain, Mehboob Nawaz, Francesc López‐Giráldez, Kyungjo Jeong, Weilai Dong, Jong-Nam Oh, Kaya Bilgüvar, Shrikant Mane, Chang-Kyu Lee, Christopher Bystroff, Richard P. Lifton, Wasim Ahmad, Jean‐Ju Chung

    منشور في 2021
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  16. 16
    AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma

    AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma حسب Ryan D. Chow, Christopher D. Guzman, Guangchuan Wang, Florian Schmidt, Mark W. Youngblood, Lupeng Ye, Youssef Errami, Matthew B. Dong, Michael A. Q. Martinez, Sensen Zhang, Paul Renauer, Kaya Bilgüvar, Murat Günel, Phillip A. Sharp, Feng Zhang, Randall J. Platt, Sidi Chen

    منشور في 2017
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  17. 17
    Human CRY1 variants associate with attention deficit/hyperactivity disorder

    Human CRY1 variants associate with attention deficit/hyperactivity disorder حسب 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

    منشور في 2020
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  18. 18
    A novel de novo mutation in<i>ATP1A3</i>and childhood-onset schizophrenia

    A novel de novo mutation in<i>ATP1A3</i>and childhood-onset schizophrenia حسب Niklas Smedemark-Margulies, Catherine A. Brownstein, Sigella Vargas, Sahil Tembulkar, Meghan C. Towne, Jiahai Shi, Elisa Gonzalez-Cuevas, Kevin X. Liu, Kaya Bilgüvar, Robin J. Kleiman, Min‐Joon Han, Alcy Torres, Gerard T. Berry, Timothy W. Yu, Alan H. Beggs, Pankaj B. Agrawal, Joseph Gonzalez‐Heydrich

    منشور في 2016
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  19. 19
    Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies <i><scp>KMT</scp>2<scp>D</scp></i> as a recurrently mutated gene

    Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies <i><scp>KMT</scp>2<scp>D</scp></i> as a recurrently mutated gene حسب C. Christofer Juhlin, Adam Stenman, Felix Haglund, Victoria Clark, T Brown, Jacob F. Baranoski, Kaya Bilgüvar, Gerald Goh, Jenny Welander, Fredrika Svahn, Jill C. Rubinstein, Stefano Caramuta, Katsuhito Yasuno, Murat Günel, Martin Bäckdahl, Oliver Gimm, Peter Söderkvist, Manju L. Prasad, Reju Korah, Richard P. Lifton, Tobias Carling

    منشور في 2015
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  20. 20
    Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

    Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening حسب Bridget Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, C Girod, Jonathan C. Weissler, John Fitzgerald, Corey D. Kershaw, Julia Klesney‐Tait, Yolanda Mageto, Jerry W. Shay, Weizhen Ji, Kaya Bilgüvar, Shrikant Mane, Richard P. Lifton, Christine Kim Garcia

    منشور في 2015
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