46 results for Sobreira,+Nara

46 results for Sobreira,+Nara

Export record to excel

File type to download

Beta version
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    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
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Schnur, Rhonda E. ; Yousaf, Sairah ; Liu, James ; Chung, Wendy K. ; Rhodes, Lindsay ; Marble, Michael ; Zambrano, Regina M. ; Sobreira, Nara ; Jayakar, Parul ; Pierpont, Mary Ella ; Schultz, Matthew J. ; Pichurin, Pavel N. ; Olson, Rory J. ; Graham, Gail E. ; Osmond, Matthew ; Contreras-García, Gustavo A. ; Campo-Neira, Karina A. ; Peñaloza-Mantilla, Camilo A. ; Flage, Mark ; Kuppa, Srikar ; Navarro, Karina ; Sacoto, Maria J. Guillen ; Wentzensen, Ingrid M. ; Scarano, Maria I. ; Juusola, Jane ; Prada, Carlos E. ; Hufnagel, Robert B.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-09, Vol.23 (9), p.1624-1635
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Gowans, Lord J. J. ; Al Dhaheri, Noura ; Li, Mary ; Busch, Tamara ; Obiri‐Yeboah, Solomon ; Oti, Alexander A. ; Sabbah, Daniel K. ; Arthur, Fareed K. N. ; Awotoye, Waheed O. ; Alade, Azeez A. ; Twumasi, Peter ; Agbenorku, Pius ; Plange‐Rhule, Gyikua ; Naicker, Thirona ; Donkor, Peter ; Murray, Jeffrey C. ; Sobreira, Nara L. M. ; Butali, Azeez
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1655-n/a
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Sobreira, Nara L. ; Valle, David
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2016-07, Vol.4 (4), p.371-375
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Hoorntje, Edgar T. ; Posafalvi, Anna ; Syrris, Petros ; van der Velde, K. Joeri ; Bolling, Marieke C. ; Protonotarios, Alexandros ; Boven, Ludolf G. ; Amat-Codina, Nuria ; Groeneweg, Judith A. ; Wilde, Arthur A. ; Sobreira, Nara ; Calkins, Hugh ; Hauer, Richard N. W. ; Jonkman, Marcel F. ; McKenna, William J. ; Elliott, Perry M. ; Sinke, Richard J. ; van den Berg, Maarten P. ; Chelko, Stephen P. ; James, Cynthia A. ; van Tintelen, J. Peter ; Judge, Daniel P. ; Jongbloed, Jan D. H.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2018-08, Vol.13 (8), p.e0203078
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Sobreira, Nara ; Wohler, Elizabeth ; Laham, Ailee ; Hufnagel, Robert B. ; Sisk, Robert A. ; Ahmed, Zubair M.
    Publisher:Cairo, Egypt: Hindawi Publishing Corporation
    Journal title:Journal of ophthalmology, 2018-01, Vol.2018 (2018), p.1-13
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Koshorek, Jacqueline ; de Macena Sobreira, Nara ; Saidha, Shiv
    Publisher:England: BMJ Publishing Group LTD
    Journal title:BMJ case reports, 2022-07, Vol.15 (7), p.e249061
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Pant, Devesh C. ; Dorboz, Imen ; Schluter, Agatha ; Fourcade, Stéphane ; Launay, Nathalie ; Joya, Javier ; Aguilera-Albesa, Sergio ; Yoldi, Maria Eugenia ; Casasnovas, Carlos ; Willis, Mary J. ; Ruiz, Montserrat ; Ville, Dorothée ; Lesca, Gaetan ; Siquier-Pernet, Karine ; Desguerre, Isabelle ; Yan, Huifang ; Wang, Jingmin ; Burmeister, Margit ; Brady, Lauren ; Tarnopolsky, Mark ; Cornet, Carles ; Rubbini, Davide ; Terriente, Javier ; James, Kiely N. ; Musaev, Damir ; Zaki, Maha S. ; Patterson, Marc C. ; Lanpher, Brendan C. ; Klee, Eric W. ; Pinto e Vairo, Filippo ; Wohler, Elizabeth ; Sobreira, Nara Lygia de M. ; Cohen, Julie S. ; Maroofian, Reza ; Galehdari, Hamid ; Mazaheri, Neda ; Shariati, Gholamreza ; Colleaux, Laurence ; Rodriguez, Diana ; Gleeson, Joseph G. ; Pujades, Cristina ; Fatemi, Ali ; Boespflug-Tanguy, Odile ; Pujol, Aurora
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1240-1256
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Tracz, Jovanna ; Judy, Brendan F ; Jiang, Kelly J ; Caraway, Chad A ; Yang, Wuyang ; De Macena Sobreira, Nara Lygia ; Khan, Majid ; Witham, Timothy F
    Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
    Journal title:Journal of neurointerventional surgery, 2024-07, Vol.16 (7), p.737-741
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Gould, Russell A. ; Aziz, Hamza ; Woods, Courtney E. ; Seman-Senderos, Manuel Alejandro ; Sparks, Elizabeth ; Preuss, Christoph ; Wünnemann, Florian ; Bedja, Djahida ; Moats, Cassandra R. ; McClymont, Sarah A. ; Rose, Rebecca ; Sobreira, Nara ; Ling, Hua ; MacCarrick, Gretchen ; Kumar, Ajay Anand ; Luyckx, Ilse ; Cannaerts, Elyssa ; Verstraeten, Aline ; Björk, Hanna M. ; Lehsau, Ann-Cathrin ; Jaskula-Ranga, Vinod ; Lauridsen, Henrik ; Shah, Asad A. ; Bennett, Christopher L. ; Ellinor, Patrick T. ; Lin, Honghuang ; Isselbacher, Eric M. ; Lino Cardenas, Christian Lacks ; Butcher, Jonathan T. ; Hughes, G. Chad ; Lindsay, Mark E. ; Mertens, Luc ; Franco-Cereceda, Anders ; Verhagen, Judith M. A. ; Wessels, Marja ; Mohamed, Salah A. ; Eriksson, Per ; Mital, Seema ; Van Laer, Lut ; Loeys, Bart L. ; Andelfinger, Gregor ; McCallion, Andrew S. ; Dietz, Harry C.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2019-01, Vol.51 (1), p.42-50
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Shafique, Anum ; Arif, Beenish ; Chu, Mary Lynn ; Moran, Ellen ; Hussain, Tooba ; Zamora, Francisca Millan ; Wohler, Elizabeth ; Sobreira, Nara ; Klein, Christine ; Lohmann, Katja ; Naz, Sadaf
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2023-04, Vol.60 (4), p.352-358
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 21 to 40 of 46 results