Sökresultat - Sevcan Tuğ Bozdoğan

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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 av 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

    Publicerad 2015
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  2. 2
    Phenotypic expansion illuminates multilocus pathogenic variation

    Phenotypic expansion illuminates multilocus pathogenic variation av 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

    Publicerad 2018
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  3. 3
    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin av 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

    Publicerad 2016
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  4. 4
    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 av 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

    Publicerad 2022
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  5. 5
    Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

    Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes av 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

    Publicerad 2015
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  6. 6
    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis av Aimée L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sánchez‐Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare V. Logan, Sevcan Tuğ Bozdoğan, Sumita Danda, Joanne Dixon, Solaf M. Elsayed, Ezzat Elsobky, Alice Gardham, Mariëtte J.V. Hoffer, Marion Koopmans, Donna M. McDonald‐McGinn, Gijs W.E. Santen, Ravi Savarirayan, Deepthi De Silva, Olivier Vanakker, Steven A. Wall, Louise C. Wilson, Özge Özalp Yüreğir, Elaine H. Zackai, Chris P. Ponting, Andrew P. Jackson, Andrew O.M. Wilkie, Wojciech Niedźwiedź, Louise S. Bicknell

    Publicerad 2016
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  7. 7
    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 av 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

    Publicerad 2021
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  8. 8
    Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paralog Studies Augment Gene Discovery: DDX and DHX Genes av 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

    Publicerad 2019
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  9. 9
    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 av 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

    Publicerad 2015
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  10. 10
    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification av Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed

    Publicerad 2020
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