Výsledky vyhledávání - Yavuz Bayram

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  1. 1
    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome Autor Ender Karaca, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Davut Pehli̇van, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Vydáno 2015
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  2. 2
    Phenotypic expansion illuminates multilocus pathogenic variation

    Phenotypic expansion illuminates multilocus pathogenic variation Autor Ender Karaca, Jennifer E. Posey, Zeynep Coban‐Akdemir, Davut Pehli̇van, Tamar Harel, Shalini N. Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Gözde Yeşil, Sedat Işıkay, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Vydáno 2018
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  3. 3
    Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

    Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome Autor Ender Karaca, Ramazan Büyükkaya, Davut Pehli̇van, Wu‐Lin Charng, Kürşat Oğuz Yaykaşlı, Yavuz Bayram, Tomasz Gambin, Marjorie Withers, Mehmed M. Atik, İlknur Arslanoğlu, Semih Bolu, Serkan Erdin, Ayla Büyükkaya, Emine Yaykaşlı, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Vydáno 2014
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  4. 4
    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency Autor Anlu Chen, Dov Tiosano, Tülay Güran, Hagit Baris, Yavuz Bayram, Adi Mory, Laura Shapiro-Kulnane, Craig A. Hodges, Zeynep Coban‐Akdemir, Serap Turan, Shalini N. Jhangiani, Focco van den Akker, Charles L. Hoppel, Helen K. Salz, James R. Lupski, David A. Buchner

    Vydáno 2018
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  5. 5
    DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

    DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome Autor Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Bregje W.M. van Bon, V. Reid Sutton, James R. Lupski, Han G. Brunner, Claudia M.B. Carvalho

    Vydáno 2016
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  6. 6
    Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

    Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles Autor Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, Shalini N. Jhangiani, Jawid M. Fatih, Tomasz Gambin, Yavuz Bayram, Iván K. Chinn, Ender Karaca, Jaya Punetha, M. Cecilia Poli, Eric Boerwinkle, Chad A. Shaw, Jordan S. Orange, Richard A. Gibbs, Tuuli Lappalainen, James R. Lupski, Claudia M.B. Carvalho

    Vydáno 2018
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  7. 7
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis Autor Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Vydáno 2017
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  8. 8
    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort Autor Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M.B. Carvalho, Chad A. Shaw, Shalini N. Jhangiani, Philip M. Boone, Mohammad K. Eldomery, Ender Karaca, Yavuz Bayram, Asbjørg Stray‐Pedersen, Donna M. Muzny, Wu‐Lin Charng, Vahid Bahrambeigi, John W. Belmont, Eric Boerwinkle, Arthur L. Beaudet, Richard A. Gibbs, James R. Lupski

    Vydáno 2016
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  9. 9
    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy Autor Tamar Harel, Gözde Yeşil, Yavuz Bayram, Zeynep Coban‐Akdemir, Wu‐Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K. Eldomery, Jill V. Hunter, Shalini N. Jhangiani, Jill A. Rosenfeld, Davut Pehli̇van, Ayman W. El‐Hattab, Mohammed A. Saleh, Charles A. LeDuc, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Wendy K. Chung, Yaping Yang, John W. Belmont, James R. Lupski

    Vydáno 2016
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  10. 10
    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Autor Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir, Elif Ozdamar Yilmaz, Gulsen Akay Tayfun, Hatip Aydın, Deniz Torun, Sevcan Tuğ Bozdoğan, Alper Gezdirici, Sedat Işıkay, Mehmed M. Atik, Tomasz Gambin, Tamar Harel, Ayman W. El‐Hattab, Wu‐Lin Charng, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Ali̇ Karaman, Tamer Çelik, Özge Özalp Yüreğir, Timur Yıldırım, Avni İlhan Bayhan, Eric Boerwinkle, Richard A. Gibbs, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski

    Vydáno 2016
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  11. 11
    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease Autor Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tülay Tos, Zehra Yavaş Abalı, Bülent Hacıhamdioğlu, Zeynep H. Coban Akdemir, Hadia Hijazi, Serpil Baş, Zeynep Atay, Tülay Güran, Saygın Abalı, Firdevs Baş, Feyza Darendelıler, Roberto Colombo, Tahsin Stefan Barakat, Tuula Rinne, Janson J. White, Gözde Yeşil, Alper Gezdirici, Elif Yılmaz Güleç, Ender Karaca, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Şükran Poyrazoğlu, Abdullah Bereket, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski

    Vydáno 2019
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  12. 12
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Autor Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç, Hatice Koçak Eker, Silvia R. Costa, Yavuz Şahin, Zeynep Ocak, Sedat Işıkay, Özge Özalp, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Nursel Elçioǧlu, Débora Romeo Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gülsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban‐Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehli̇van, Richard A. Gibbs, James R. Lupski

    Vydáno 2022
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  13. 13
    Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

    Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes Autor Bo Yuan, Davut Pehli̇van, Ender Karaca, Nisha Patel, Wu‐Lin Charng, Tomasz Gambin, Claudia Gonzaga‐Jauregui, V. Reid Sutton, Gözde Yeşil, Sevcan Tuğ Bozdoğan, Tülay Tos, Asuman Koparır, Erkan Koparir, Christine R. Beck, Shen Gu, Hüseyin Aslan, Özge Özalp Yüreğir, Khalid Al Rubeaan, Dhekra Alnaqeb, Muneera J. Alshammari, Yavuz Bayram, Mehmed M. Atik, Hatip Aydın, Bilgen Bilge Geçkinli, Mehmet Seven, Hakan Ulucan, Elif Fenercioğlu, Mustafa Özen, Shalini N. Jhangiani, Donna M. Muzny, Eric Boerwinkle, Beyhan Tüysüz, Fowzan S. Alkuraya, Richard A. Gibbs, James R. Lupski

    Vydáno 2015
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  14. 14
    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Autor Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yılmaz Güleç, Francis Ramond, Renaud Touraine, Julien Thévenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover‐Fong, Ceren Damla Durmaz, Halil Gürhan Karabulut, Ebru Marzioğlu Özdemir, Atilla Çayır, Mehmet Buğrahan Düz, Mehmet Seven, Susan Price, Bárbara Merfort Ferreira, Angela Maria Vianna‐Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho

    Vydáno 2017
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  15. 15
    The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

    The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Autor Davut Pehli̇van, Yavuz Bayram, Nilay Güneş, Zeynep Coban‐Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Şahin, Alper Gezdirici, Jawid M. Fatih, Elif Yılmaz Güleç, Gözde Yeşil, Jaya Punetha, Zeynep Ocak, Christopher M. Grochowski, Ender Karaca, Hatice Mutlu Albayrak, Periyasamy Radhakrishnan, Haktan Bağış Erdem, İbrahim Şahin, Timur Yıldırım, Avni İlhan Bayhan, Ayşegül Bursalı, Muhsin Elmas, Zafer Yüksel, Öztürk Özdemir, Fatma Sılan, Onur Yıldız, Osman Yeşilbaş, Sedat Işıkay, Burhan Balta, Shen Gu, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Konstantinos Tsiakas, Maja Hempel, Katta M. Girisha, Davut Gül, Jennifer E. Posey, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski

    Vydáno 2019
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  16. 16
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Autor Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van

    Vydáno 2021
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  17. 17
    Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paralog Studies Augment Gene Discovery: DDX and DHX Genes Autor Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski, Shalini N. Jhangiani, Sarah Rosenheck, Robert Kleyner, Taylor Marmorale, Margaret S. Yoon, Kai Wang, Reid Robison, Gerarda Cappuccio, Michele Pinelli, Adriano Magli, Zeynep Coban‐Akdemir, Joannie Hui, Wai Lan Yeung, Bibiana K. Y. Wong, Lucia Ortega, Mir Reza Bekheirnia, Tatjana Bierhals, Maja Hempel, Jessika Johannsen, René Santer, Dilek Aktaş, Mehmet Alikaşifoĝlu, Sevcan Tuğ Bozdoğan, Hatip Aydın, Ender Karaca, Yavuz Bayram, Hadas Ityel, Michael O. Dorschner, Janson J. White, Ekkehard Wilichowski, Saskia B. Wortmann, Erasmo Barbante Casella, João Paulo Kitajima, Fernando Kok, Fabíola Paoli Monteiro, Donna M. Muzny, Michael J. Bamshad, Richard A. Gibbs, V. Reid Sutton, Hilde Van Esch, Nicola Brunetti‐Pierri, Friedhelm Hildebrandt, Ariel Brautbar, Ignatia B. Van den Veyver, Ian Glass, Davor Lessel, Gholson J. Lyon, James R. Lupski

    Vydáno 2019
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  18. 18
    Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome

    Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome Autor Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Claudia M.B. Carvalho, Juliana F. Mazzeu

    Vydáno 2022
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  19. 19
    Back Cover, Volume 43, Issue 7

    Back Cover, Volume 43, Issue 7 Autor Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Cláudia Carvalho, Juliana F. Mazzeu

    Vydáno 2022
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  20. 20
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Autor Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoĝlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski

    Vydáno 2015
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