檢索結果 - Esra Dikoglu

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  1. 1
    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive

    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive 由 Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Y. Issa, Hea‐Jin Jung, Esra Dikoglu, Laila Selim, Imam G. Mahmoud, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Isaac Marin‐Valencia, Joseph G. Gleeson

    出版 2016
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  2. 2
    The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes

    The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes 由 Olca Baştürk, Marcus Tan, Umesh Bhanot, Peter J. Allen, Volkan Adsay, Sasinya N. Scott, Ronak Shah, Michael F. Berger, Gokce Askan, Esra Dikoglu, Vaidehi Jobanputra, Kazimierz O. Wrzeszczyński, Carlie Sigel, Christine A. Iacobuzio‐Donahue, David S. Klimstra

    出版 2016
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  3. 3
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia 由 Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    出版 2015
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  4. 4
    Indel variant analysis of short-read sequencing data with Scalpel

    Indel variant analysis of short-read sequencing data with Scalpel 由 Han Fang, Ewa A. Bergmann, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason O'Rawe, Yiyang Wu, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J. Lyon, Michael Wigler, Michael C. Schatz, Giuseppe Narzisi

    出版 2016
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  5. 5
    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease 由 Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori, Sheila Unger, Eric Hesse, Kei Yamana, Riku Kiviranta, Nicolas Solban, Jeff Liu, Robert Brommage, Koray Boduroğlu, Luisa Bonafé, Belinda Campos‐Xavier, Esra Dikoglu, Richard Eastell, Fatma Gossiel, Keith Harshman, Gen Nishimura, Katta M. Girisha, Brian J. Stevenson, Hiroyuki Takita, Carlo Rivolta, Andrea Superti‐Furga, Roland Baron

    出版 2016
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  6. 6
    Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma

    Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma 由 Olca Baştürk, Michael F. Berger, Hiroshi Yamaguchi, Volkan Adsay, Gokce Askan, Umesh Bhanot, Ahmet Zehir, Fátima Carneiro, Seung‐Mo Hong, Giuseppe Zamboni, Esra Dikoglu, Vaidehi Jobanputra, Kazimierz O. Wrzeszczyński, Serdar Balcı, Peter J. Allen, Naoki Ikari, Shoko Takeuchi, Hiroyuki Akagawa, Atsushi Kanno, Tooru Shimosegawa, Takanori Morikawa, Fuyuhiko Motoi, Michiaki Unno, Ryota Higuchi, Masakazu Yamamoto, Kyoko Shimizu, Toru Furukawa, David S. Klimstra

    出版 2017
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  7. 7
    Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

    Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) 由 Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary Scott Roberts, Douglas R. Rosing, Margaret Whelpley, Joy Bryant, Ellen F. Macnamara, Sisi Wang, Kerstin Müller, Iris R. Hartley, Emily Y. Chew, Timothy E. Corden, Christina M. Jacobsen, Ingrid A. Holm, Frank Rutsch, Esra Dikoglu, Marcus Y. Chen, M. Zulf Mughal, Michael A. Levine, Rachel I. Gafni, William A. Gahl

    出版 2020
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  8. 8
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction 由 Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    出版 2015
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  9. 9
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing 由 Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    出版 2017
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  10. 10
    SARS-CoV-2 infection of the oral cavity and saliva

    SARS-CoV-2 infection of the oral cavity and saliva 由 Ni Huang, Paola Pérez, Takafumi Kato, Yu Mikami, Kenichi Okuda, Rodney C. Gilmore, Cecilia Domínguez Conde, Billel Gasmi, Sydney Stein, Margaret Beach, Eileen Pelayo, José O. Maldonado, Bernard A. P. Lafont, Shyh-Ing Jang, Nadia Nasir, Ricardo J. Padilla, Valerie A. Murrah, Robert Maile, William Lovell, Shannon M. Wallet, Natalie M. Bowman, Suzanne L. Meinig, Matthew C. Wolfgang, Saibyasachi N. Choudhury, Mark Novotny, Brian D. Aevermann, Richard H. Scheuermann, Gabrielle Cannon, Carlton W. Anderson, Rhianna E. Lee, Julie T. Marchesan, Mandy Bush, Marcelo Freire, Adam J. Kimple, Daniel Herr, Joseph Rabin, Alison Grazioli, Sanchita Das, Benjamin French, Thomas Pranzatelli, John A. Chiorini, David E. Kleiner, Stefania Pittaluga, Stephen M. Hewitt, Peter D. Burbelo, Daniel S. Chertow, David E. Kleiner, Michelly Sampaio De Melo, Esra Dikoglu, Sabina Desar, Kris Ylaya, Joon‐Yong Chung, Grace Smith, Daniel S. Chertow, Kevin M. Vannella, Marcos J. Ramos-Benítez, Sabrina Ramelli, Shelly Samet, Ashley L. Babyak, Luis Perez Valencia, Mary Richert, Nicole Hays, Madeleine Purcell, Shreya Singireddy, Jocelyn Wu, Joon‐Yong Chung, Amy Borth, Kimberly Bowers, Anne Weichold, Douglas Tran, Ronson J. Madathil, Eric Krause, Daniel Herr, Joseph Rabin, Joseph A. Herrold, Ali Tabatabai, Eric Hochberg, Christopher R. Cornachione, Andrea R. Levine, Michael T. McCurdy, Kapil Saharia, Zack Chancer, Michael Mazzeffi, Justin E. Richards, Stephen M. Hewitt, Yashvir Sangwan, Inês Sequeira, Sarah A. Teichmann, Adam J. Kimple, Karen M. Frank, Janice S. Lee, Richard C. Boucher, Sarah A. Teichmann, Blake M. Warner, Kevin M. Byrd

    出版 2021
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  11. 11
    SARS-CoV-2 infection and persistence in the human body and brain at autopsy

    SARS-CoV-2 infection and persistence in the human body and brain at autopsy 由 Sydney Stein, Sabrina Ramelli, Alison Grazioli, Joon‐Yong Chung, Manmeet Singh, Claude Kwe Yinda, Clayton W. Winkler, Junfeng Sun, James Dickey, Kris Ylaya, Sung Hee Ko, Andrew P. Platt, Peter D. Burbelo, Martha Quezado, Stefania Pittaluga, Madeleine Purcell, Vincent J. Munster, Frida Belinky, Marcos J. Ramos-Benítez, Eli Boritz, Izabella A. Lach, Daniel Herr, Joseph Rabin, Kapil Saharia, Ronson J. Madathil, Ali Tabatabai, Shahabuddin Soherwardi, Michael T. McCurdy, Ashley L. Babyak, Luis Perez Valencia, Shelly J. Curran, Mary Richert, Willie J. Young, Sarah P. Young, Billel Gasmi, Michelly Sampaio De Melo, Sabina Desar, Saber Tadros, Nadia Nasir, Xueting Jin, Sharika Rajan, Esra Dikoglu, Neval Ozkaya, Grace Smith, Elizabeth Emanuel, Brian L. Kelsall, Justin A. Olivera, Megan Blawas, Robert A. Star, Nicole Hays, Shreya Singireddy, Jocelyn Wu, Katherine Raja, Ryan Curto, Jean E. Chung, Amy Borth, Kimberly Bowers, Anne Weichold, Paula A. Minor, Mir Ahmad N. Moshref, Emily E. Kelly, Mohammad M. Sajadi, Thomas M. Scalea, Douglas Tran, Siamak Dahi, Kristopher B. Deatrick, Eric Krause, Joseph A. Herrold, Eric Hochberg, Christopher R. Cornachione, Andrea R. Levine, Justin E. Richards, John Elder, Allen P. Burke, Michael Mazzeffi, Robert H. Christenson, Zackary A. Chancer, Mustafa Abdulmahdi, Sabrina Sopha, Tyler Goldberg, Yashvir Sangwan, Kristen Sudano, Diane Blume, Bethany Radin, David E. Kleiner, Stephen M. Hewitt, Robert E. Palermo, Anthony Harris, Thomas J. Pohida, Marcial Garmendia‐Cedillos, George Dold, Eric Saglio, Phuoc Pham, Karin E. Peterson, Jeffrey I. Cohen, Emmie de Wit, Kevin M. Vannella, Stephen M. Hewitt, David E. Kleiner, Daniel S. Chertow

    出版 2022
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