46 results for Sobreira,+Nara

46 results for Sobreira,+Nara

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    ArticlesPeer ReviewedFull Text

    Author / Creator:Sobreira, Nara L. M. ; Cirulli, Elizabeth T. ; Avramopoulos, Dimitrios ; Wohler, Elizabeth ; Oswald, Gretchen L. ; Stevens, Eric L. ; Ge, Dongliang ; Shianna, Kevin V. ; Smith, Jason P. ; Maia, Jessica M. ; Gumbs, Curtis E. ; Pevsner, Jonathan ; Thomas, George ; Valle, David ; Hoover-Fong, Julie E. ; Goldstein, David B.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2010-05, Vol.6 (6), p.e1000991
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    Author / Creator:Poll, Sarah R. ; Martin, Renan ; Wohler, Elizabeth ; Partan, Elizabeth S. ; Walek, Elizabeth ; Salman, Shaima ; Groepper, Daniel ; Kratz, Lisa ; Cernach, Mirlene ; Jesus-Garcia, Reynaldo ; Haldeman-Englert, Chad ; Choi, Yoon Jae ; Morris, Carol D. ; Cohen, Bernard ; Hoover-Fong, Julie ; Valle, David ; Semenza, Gregg L. ; Sobreira, Nara L. M.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2022-12, Vol.18 (12), p.e1010504
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    Newsletter articlesFull Text

    Publisher:NewsRX LLC
    Journal title:NewsRx Health, 2023, p.175-175
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    Author / Creator:Posey, Jennifer E. ; O’Donnell-Luria, Anne H. ; Chong, Jessica X. ; Harel, Tamar ; Jhangiani, Shalini N. ; Coban Akdemir, Zeynep H. ; Buyske, Steven ; Pehlivan, Davut ; Carvalho, Claudia M. B. ; Baxter, Samantha ; Sobreira, Nara ; Liu, Pengfei ; Wu, Nan ; Rosenfeld, Jill A. ; Kumar, Sushant ; Avramopoulos, Dimitri ; White, Janson J. ; Doheny, Kimberly F. ; Witmer, P. Dane ; Boehm, Corinne ; Sutton, V. Reid ; Muzny, Donna M. ; Boerwinkle, Eric ; Günel, Murat ; Nickerson, Deborah A. ; Mane, Shrikant ; MacArthur, Daniel G. ; Gibbs, Richard A. ; Hamosh, Ada ; Lifton, Richard P. ; Matise, Tara C. ; Rehm, Heidi L. ; Gerstein, Mark ; Bamshad, Michael J. ; Valle, David ; Lupski, James R.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.798-812
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    Author / Creator:Shafique, Anum ; Nadeem, Ayesha ; Aslam, Faiza ; Manzoor, Humera ; Noman, Muhammad ; Wohler, Elizabeth ; Witmer, P. Dane ; Sobreira, Nara ; Naz, Sadaf
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2024-06, Vol.14 (1), p.14331-9, Article 14331
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    Author / Creator:Carolina Araujo Moreno ; Sobreira, Nara ; Pugh, Elizabeth ; Zhang, Peng ; Steel, Gary ; Fábio Rossi Torres ; Denise Pontes Cavalcanti
    Publisher:Leiden: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.669-675
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    Author / Creator:Ramzan, Memoona ; Bashir, Rasheeda ; Salman, Midhat ; Mujtaba, Ghulam ; Sobreira, Nara ; Witmer, P. Dane ; Naz, Sadaf
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2020-07, Vol.10 (1), p.11902, Article 11902
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    Author / Creator:Schnappauf Oskar ; Zhou, Qing ; Moura, Natalia Sampaio ; Ombrello, Amanda K ; Michael Drew G ; Deuitch Natalie ; Barron, Karyl ; Stone, Deborah L ; Hoffmann, Patrycja ; Hershfield, Michael ; Applegate, Carolyn ; Bjornsson, Hans T ; Beck, David B ; Dane, Witmer P ; Sobreira Nara ; Wohler, Elizabeth ; Chiorini, John A ; Center The American Genome ; Dalgard, Clifton L ; Center NIH Intramural Sequencing ; Kastner, Daniel L ; Aksentijevich Ivona
    Publisher:New York: Springer Nature B.V
    Journal title:Journal of clinical immunology, 2020-08, Vol.40 (6), p.917-926
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    Author / Creator:Cananzi, Mara ; Wohler, Elizabeth ; Marzollo, Antonio ; Colavito, Davide ; You, Jing ; Jing, Huie ; Bresolin, Silvia ; Gaio, Paola ; Martin, Renan ; Mescoli, Claudia ; Bade, Sangeeta ; Posey, Jennifer E. ; Dalle Carbonare, Maurizio ; Tung, Wesley ; Jhangiani, Shalini N. ; Bosa, Luca ; Zhang, Yu ; Filho, Joselito Sobreira ; Gabelli, Maria ; Kellermayer, Richard ; Kader, Howard A. ; Oliva-Hemker, Maria ; Perilongo, Giorgio ; Lupski, James R. ; Biffi, Alessandra ; Valle, David ; Leon, Alberta ; de Macena Sobreira, Nara Lygia ; Su, Helen C. ; Guerrerio, Anthony L.
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Human genetics, 2021-09, Vol.140 (9), p.1299-1312
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    Author / Creator:Liu, Jiaqi ; Wu, Nan ; Yang, Nan ; Takeda, Kazuki ; Chen, Weisheng ; Li, Weiyu ; Du, Renqian ; Liu, Sen ; Zhou, Yangzhong ; Zhang, Ling ; Liu, Zhenlei ; Zuo, Yuzhi ; Zhao, Sen ; Blank, Robert ; Pehlivan, Davut ; Dong, Shuangshuang ; Zhang, Jianguo ; Shen, Jianxiong ; Si, Nuo ; Wang, Yipeng ; Liu, Gang ; Li, Shugang ; Zhao, Yanxue ; Zhao, Hong ; Chen, Yixin ; Zhao, Yu ; Song, Xiaofei ; Hu, Jianhua ; Lin, Mao ; Tian, Ye ; Yuan, Bo ; Yu, Keyi ; Niu, Yuchen ; Yu, Bin ; Li, Xiaoxin ; Chen, Jia ; Yan, Zihui ; Zhu, Qiankun ; Meng, Xiaolu ; Chen, Xiaoli ; Su, Jianzhong ; Zhao, Xiuli ; Wang, Xiaoyue ; Ming, Yue ; Li, Xiao ; Raggio, Cathleen L. ; Zhang, Baozhong ; Weng, Xisheng ; Zhang, Shuyang ; Zhang, Xue ; Watanabe, Kota ; Matsumoto, Morio ; Jin, Li ; Shen, Yiping ; Sobreira, Nara L. ; Posey, Jennifer E. ; Giampietro, Philip F. ; Valle, David ; Liu, Pengfei ; Wu, Zhihong ; Ikegawa, Shiro ; Lupski, James R. ; Zhang, Feng ; Qiu, Guixing
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2019-07, Vol.21 (7), p.1548-1558
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    Author / Creator:Pelak, Kimberly ; Shianna, Kevin V. ; Ge, Dongliang ; Maia, Jessica M. ; Zhu, Mingfu ; Smith, Jason P. ; Cirulli, Elizabeth T. ; Fellay, Jacques ; Dickson, Samuel P. ; Gumbs, Curtis E. ; Heinzen, Erin L. ; Need, Anna C. ; Ruzzo, Elizabeth K. ; Singh, Abanish ; Campbell, C. Ryan ; Hong, Linda K. ; Lornsen, Katharina A. ; McKenzie, Alexander M. ; Sobreira, Nara L. M. ; Hoover-Fong, Julie E. ; Milner, Joshua D. ; Ottman, Ruth ; Haynes, Barton F. ; Goedert, James J. ; Goldstein, David B.
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2010-09, Vol.6 (9), p.e1001111
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    Author / Creator:Schossig, Anna ; Bloch-Zupan, Agnès ; Lussi, Adrian ; Wolf, Nicole I ; Raskin, Salmo ; Cohen, Monika ; Giuliano, Fabienne ; Jurgens, Julie ; Krabichler, Birgit ; Koolen, David A ; de Macena Sobreira, Nara Lygia ; Maurer, Elisabeth ; Muller-Bolla, Michèle ; Penzien, Johann ; Zschocke, Johannes ; Kapferer-Seebacher, Ines
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2017-01, Vol.54 (1), p.54-62
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    Author / Creator:Malhotra, Alka ; Ziegler, Alban ; Shu, Li ; Perrier, Renee ; Amlie-Wolf, Louise ; Wohler, Elizabeth ; Lygia de Macena Sobreira, Nara ; Colin, Estelle ; Vanderver, Adeline ; Sherbini, Omar ; Stouffs, Katrien ; Scalais, Emmanuel ; Serretti, Alessandro ; Barth, Magalie ; Navet, Benjamin ; Rollier, Paul ; Xi, Hui ; Wang, Hua ; Zhang, Hainan ; Perry, Denise L ; Ferrarini, Alessandra ; Colombo, Roberto ; Pepler, Alexander ; Schneider, Adele ; Tomiwa, Kiyotaka ; Okamoto, Nobuhiko ; Matsumoto, Naomichi ; Miyake, Noriko ; Taft, Ryan ; Mao, Xiao ; Bonneau, Dominique
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2021-10, Vol.58 (10), p.712-716
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    Author / Creator:Preuss, Christoph ; Capredon, Melanie ; Wünnemann, Florian ; Chetaille, Philippe ; Prince, Andrea ; Godard, Beatrice ; Leclerc, Severine ; Sobreira, Nara ; Ling, Hua ; Awadalla, Philip ; Thibeault, Maryse ; Khairy, Paul ; Samuels, Mark E. ; Andelfinger, Gregor
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2016-10, Vol.12 (10), p.e1006335
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    Author / Creator:Wohler, Elizabeth ; Martin, Renan ; Griffith, Sean ; Rodrigues, Eliete da S. ; Antonescu, Corina ; Posey, Jennifer E. ; Coban-Akdemir, Zeynep ; Jhangiani, Shalini N. ; Doheny, Kimberly F. ; Lupski, James R. ; Valle, David ; Hamosh, Ada ; Sobreira, Nara
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-10, Article 365
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    Author / Creator:Qandeel, Zahra ; Çakmak Çağla ; Koprulu Mine ; Shuaib Muhammad ; Sobreira Nara ; Kalsner Louisa ; Sobreira Joselito ; Guillen Sacoto Maria J ; Malik Sajid ; Tolun Aslıhan
    Publisher:London: Nature Publishing Group
    Journal title:Journal of human genetics, 2020-12, Vol.65 (12), p.1115-1123
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    Author / Creator:Ben-Salem, Salma ; Robbins, Sarah M ; LM Sobreira, Nara ; Lyon, Angeline ; Al-Shamsi, Aisha M ; Islam, Barira K ; Akawi, Nadia A ; John, Anne ; Thachillath, Pramathan ; Al Hamed, Sania ; Valle, David ; Ali, Bassam R ; Al-Gazali, Lihadh
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.122-130
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    Author / Creator:Jurgens, Julie ; Ling, Hua ; Hetrick, Kurt ; Pugh, Elizabeth ; Schiettecatte, Francois ; Doheny, Kimberly ; Hamosh, Ada ; Avramopoulos, Dimitri ; Valle, David ; Sobreira, Nara
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2015-10, Vol.17 (10), p.782-788
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    Author / Creator:Nafisinia, Michael ; Sobreira, Nara ; Riley, Lisa ; Gold, Wendy ; Uhlenberg, Birgit ; Weiß, Claudia ; Boehm, Corinne ; Prelog, Kristina ; Ouvrier, Robert ; Christodoulou, John
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1134-1141
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    Author / Creator:Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco-Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R. F. ; van Essen, Antonie J. ; Oufadem, Myriam ; Vigeland, Magnus D. ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton-Smith, Jill ; Innis, Jeffrey W. ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K. ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M. ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M. ; Heeley, Jennifer ; Briere, Lauren C. ; High, Frances A. ; Sweetser, David A. ; Walker, Melissa A. ; Keegan, Catherine E. ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S. ; Earl, Dawn L. ; Siu, Victoria M. ; Reesor, Emma ; Yao, Tony ; Hegele, Robert A. ; Vaske, Olena M. ; Rego, Shannon ; Shapiro, Kevin A. ; Wong, Brian ; Gambello, Michael J. ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O’Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y. ; Christodoulou, John ; White, Susan M. ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T. ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher T.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-07, Vol.22 (7), p.1215-1226
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