211 results for Nervous+System+Malformations+-+genetics

211 results for Nervous+System+Malformations+-+genetics

  • Export to excel
  • Print

    • Export record to excel

    File type to download

    Beta version

    • Export this record

    • Export to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Hansen, Anne Louise ; Buchan, Gregory J. ; Rühl, Michael ; Mukai, Kojiro ; Salvatore, Sonia R. ; Ogawa, Emari ; Andersen, Sidsel D. ; Iversen, Marie B. ; Thielke, Anne L. ; Gunderstofte, Camilla ; Motwani, Mona ; Møller, Charlotte T. ; Jakobsen, Andreas S. ; Fitzgerald, Katherine A. ; Roos, Jessica ; Lin, Rongtuan ; Maier, Thorsten J. ; Goldbach-Mansky, Raphaela ; Miner, Cathrine A. ; Qian, Wei ; Miner, Jonathan J. ; Rigby, Rachel E. ; Rehwinkel, Jan ; Jakobsen, Martin R. ; Arai, Hiroyuki ; Taguchi, Tomohiko ; Schopfer, Francisco J. ; Olagnier, David ; Holm, Christian K.
      Publisher:United States: National Academy of Sciences
      Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-08, Vol.115 (33), p.E7768-E7775
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Homsy, Jason ; Zaidi, Samir ; Shen, Yufeng ; Ware, James S. ; Samocha, Kaitlin E. ; Karczewski, Konrad J. ; DePalma, Steven R. ; McKean, David ; Wakimoto, Hiroko ; Gorham, Josh ; Jin, Sheng Chih ; Deanfield, John ; Giardini, Alessandro ; Porter, George A. ; Kim, Richard ; Bilguvar, Kaya ; López-Giráldez, Francesc ; Tikhonova, Irina ; Mane, Shrikant ; Romano-Adesman, Angela ; Qi, Hongjian ; Vardarajan, Badri ; Ma, Lijiang ; Daly, Mark ; Roberts, Amy E. ; Russell, Mark W. ; Mital, Seema ; Newburger, Jane W. ; Gaynor, J. William ; Breitbart, Roger E. ; Iossifov, Ivan ; Ronemus, Michael ; Sanders, Stephan J. ; Kaltman, Jonathan R. ; Seidman, Jonathan G. ; Brueckner, Martina ; Gelb, Bruce D. ; Goldmuntz, Elizabeth ; Lifton, Richard P. ; Seidman, Christine E. ; Chung, Wendy K.
      Publisher:United States: American Association for the Advancement of Science
      Journal title:Science (American Association for the Advancement of Science), 2015-12, Vol.350 (6265), p.1262-1266
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Collier, Jack J ; Guissart, Claire ; Oláhová, Monika ; Sasorith, Souphatta ; Piron-Prunier, Florence ; Suomi, Fumi ; Zhang, David ; Martinez-Lopez, Nuria ; Leboucq, Nicolas ; Bahr, Angela ; Azzarello-Burri, Silvia ; Reich, Selina ; Schöls, Ludger ; Polvikoski, Tuomo M ; Meyer, Pierre ; Larrieu, Lise ; Schaefer, Andrew M ; Alsaif, Hessa S ; Alyamani, Suad ; Zuchner, Stephan ; Barbosa, Inês A ; Deshpande, Charu ; Pyle, Angela ; Rauch, Anita ; Synofzik, Matthis ; Alkuraya, Fowzan S ; Rivier, François ; Ryten, Mina ; McFarland, Robert ; Delahodde, Agnès ; McWilliams, Thomas G ; Koenig, Michel ; Taylor, Robert W
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Neven, Bénédicte ; Al Adba, Buthaina ; Hully, Marie ; Desguerre, Isabelle ; Pressiat, Claire ; Boddaert, Natalie ; Duffy, Darragh ; Rice, Gillian I ; Seabra, Luis ; Frémond, Marie-Louise ; Blanche, Stéphane ; Crow, Yanick J ; Adang, Laura ; Goldbach-Mansky, Raphaela ; Vanderver, Adeline
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2020-11, Vol.383 (22), p.2190-2193
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Rice, Gillian I ; del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella M A ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno J V ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O'Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick J
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2014-05, Vol.46 (5), p.503-509
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Uggenti, Carolina ; Lepelley, Alice ; Depp, Marine ; Badrock, Andrew P. ; Rodero, Mathieu P. ; El-Daher, Marie-Thérèse ; Rice, Gillian I. ; Dhir, Somdutta ; Wheeler, Ann P. ; Dhir, Ashish ; Albawardi, Waad ; Frémond, Marie-Louise ; Seabra, Luis ; Doig, Jennifer ; Blair, Natalie ; Martin-Niclos, Maria José ; Della Mina, Erika ; Rubio-Roldán, Alejandro ; García-Pérez, Jose L. ; Sproul, Duncan ; Rehwinkel, Jan ; Hertzog, Jonny ; Boland-Auge, Anne ; Olaso, Robert ; Deleuze, Jean-François ; Baruteau, Julien ; Brochard, Karine ; Buckley, Jonathan ; Cavallera, Vanessa ; Cereda, Cristina ; De Waele, Liesbeth M. H. ; Dobbie, Angus ; Doummar, Diane ; Elmslie, Frances ; Koch-Hogrebe, Margarete ; Kumar, Ram ; Lamb, Kate ; Livingston, John H. ; Majumdar, Anirban ; Lorenço, Charles Marques ; Orcesi, Simona ; Peudenier, Sylviane ; Rostasy, Kevin ; Salmon, Caroline A. ; Scott, Christiaan ; Tonduti, Davide ; Touati, Guy ; Valente, Marialuisa ; van der Linden, Hélio ; Van Esch, Hilde ; Vermelle, Marie ; Webb, Kate ; Jackson, Andrew P. ; Reijns, Martin A. M. ; Gilbert, Nick ; Crow, Yanick J.
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2020-12, Vol.52 (12), p.1364-1372
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Rice, Gillian I ; Kasher, Paul R ; Forte, Gabriella M A ; Mannion, Niamh M ; Greenwood, Sam M ; Szynkiewicz, Marcin ; Dickerson, Jonathan E ; Bhaskar, Sanjeev S ; Zampini, Massimiliano ; Briggs, Tracy A ; Jenkinson, Emma M ; Bacino, Carlos A ; Battini, Roberta ; Bertini, Enrico ; Brogan, Paul A ; Brueton, Louise A ; Carpanelli, Marialuisa ; De Laet, Corinne ; de Lonlay, Pascale ; del Toro, Mireia ; Desguerre, Isabelle ; Fazzi, Elisa ; Garcia-Cazorla, Àngels ; Heiberg, Arvid ; Kawaguchi, Masakazu ; Kumar, Ram ; Lin, Jean-Pierre S-M ; Lourenco, Charles M ; Male, Alison M ; Marques, Wilson ; Mignot, Cyril ; Olivieri, Ivana ; Orcesi, Simona ; Prabhakar, Prab ; Rasmussen, Magnhild ; Robinson, Robert A ; Rozenberg, Flore ; Schmidt, Johanna L ; Steindl, Katharina ; Tan, Tiong Y ; van der Merwe, William G ; Vanderver, Adeline ; Vassallo, Grace ; Wakeling, Emma L ; Wassmer, Evangeline ; Whittaker, Elizabeth ; Livingston, John H ; Lebon, Pierre ; Suzuki, Tamio ; McLaughlin, Paul J ; Keegan, Liam P ; O'Connell, Mary A ; Lovell, Simon C ; Crow, Yanick J
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2012-11, Vol.44 (11), p.1243-1248
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Greenblatt, Ethan J ; Spradling, Allan C
      Publisher:United States: The American Association for the Advancement of Science
      Journal title:Science (American Association for the Advancement of Science), 2018-08, Vol.361 (6403), p.709-712
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Rice, Gillian I, PhD ; Forte, Gabriella M A, MPhil ; Szynkiewicz, Marcin, MSc ; Chase, Diana S, PhD ; Aeby, Alec, MD ; Abdel-Hamid, Mohamed S, MSc ; Ackroyd, Sam, MB ChB ; Allcock, Rebecca, FRCPath ; Bailey, Kathryn M, MRCPCH ; Balottin, Umberto, MD ; Barnerias, Christine, MD ; Bernard, Genevieve, MD ; Bodemer, Christine, PhD ; Botella, Maria P, MD ; Cereda, Cristina, PhD ; Chandler, Kate E, MD ; Dabydeen, Lyvia, MRCPCH ; Dale, Russell C, PhD ; De Laet, Corinne, MD ; De Goede, Christian G E L, FRCPCH ; del Toro, Mireia, MD ; Effat, Laila, PhD ; Enamorado, Noemi Nunez, MD ; Fazzi, Elisa, MD ; Gener, Blanca, MD ; Haldre, Madli, BSc ; Lin, Jean-Pierre S-M, PhD ; Livingston, John H, MB ChB ; Lourenco, Charles Marques, MD ; Marques, Wilson, MD ; Oades, Patrick, FRCPCH ; Peterson, Pärt, PhD ; Rasmussen, Magnhild, MD ; Roubertie, Agathe, MD ; Schmidt, Johanna Loewenstein, CGC ; Shalev, Stavit A, MD ; Simon, Rogelio, MD ; Spiegel, Ronen, MD ; Swoboda, Kathryn J, FACMG ; Temtamy, Samia A, PhD ; Vassallo, Grace, MD ; Vilain, Catheline N, MD ; Vogt, Julie, MRCP ; Wermenbol, Vanessa, MD ; Whitehouse, William P, FRCPCH ; Soler, Doriette, MD ; Olivieri, Ivana, MD ; Orcesi, Simona, MD ; Aglan, Mona S, PhD ; Zaki, Maha S, PhD ; Abdel-Salam, Ghada M H, PhD ; Vanderver, Adeline, MD ; Kisand, Kai, PhD ; Rozenberg, Flore, MD ; Lebon, Pierre, MD ; Crow, Yanick J, Prof
      Publisher:England: Elsevier Ltd
      Journal title:Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Baldauf, Hanna-Mari ; Pan, Xiaoyu ; Erikson, Elina ; Schmidt, Sarah ; Daddacha, Waaqo ; Burggraf, Manja ; Schenkova, Kristina ; Ambiel, Ina ; Wabnitz, Guido ; Gramberg, Thomas ; Panitz, Sylvia ; Flory, Egbert ; Landau, Nathaniel R ; Sertel, Serkan ; Rutsch, Frank ; Lasitschka, Felix ; Kim, Baek ; König, Renate ; Fackler, Oliver T ; Keppler, Oliver T
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature medicine, 2012-11, Vol.18 (11), p.1682-1688
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Ryoo, Jeongmin ; Choi, Jongsu ; Oh, Changhoon ; Kim, Sungchul ; Seo, Minji ; Kim, Seok-Young ; Seo, Daekwan ; Kim, Jongkyu ; White, Tommy E ; Brandariz-Nuñez, Alberto ; Diaz-Griffero, Felipe ; Yun, Cheol-Heui ; Hollenbaugh, Joseph A ; Kim, Baek ; Baek, Daehyun ; Ahn, Kwangseog
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature medicine, 2014-08, Vol.20 (8), p.936-941
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Adang, Laura ; Goldbach-Mansky, Raphaela ; Vanderver, Adeline
      Publisher:United States
      Journal title:The New England journal of medicine, 2020-11, Vol.383 (22), p.2191
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Rice, Gillian I. ; Rodero, Mathieu P. ; Crow, Yanick J.
      Publisher:Boston: Springer US
      Journal title:Journal of clinical immunology, 2015-04, Vol.35 (3), p.235-243
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Girirajan, Santhosh ; Brkanac, Zoran ; Coe, Bradley P ; Baker, Carl ; Vives, Laura ; Vu, Tiffany H ; Shafer, Neil ; Bernier, Raphael ; Ferrero, Giovanni B ; Silengo, Margherita ; Warren, Stephen T ; Moreno, Carlos S ; Fichera, Marco ; Romano, Corrado ; Raskind, Wendy H ; Eichler, Evan E
      Publisher:United States: Public Library of Science
      Journal title:PLoS genetics, 2011-11, Vol.7 (11), p.e1002334
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Scala, Marcello ; Torella, Annalaura ; Severino, Mariasavina ; Morana, Giovanni ; Castello, Raffaele ; Accogli, Andrea ; Verrico, Antonio ; Vari, Maria Stella ; Cappuccio, Gerarda ; Pinelli, Michele ; Vitiello, Giuseppina ; Terrone, Gaetano ; D'Amico, Alessandra ; Nigro, Vincenzo ; Capra, Valeria
      Publisher:England: Nature Publishing Group
      Journal title:European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1254-1259
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Kretschmer, Stefanie ; Wolf, Christine ; König, Nadja ; Staroske, Wolfgang ; Guck, Jochen ; Häusler, Martin ; Luksch, Hella ; Nguyen, Laura A ; Kim, Baek ; Alexopoulou, Dimitra ; Dahl, Andreas ; Rapp, Alexander ; Cardoso, M Cristina ; Shevchenko, Anna ; Lee-Kirsch, Min Ae
      Publisher:England
      Journal title:Annals of the rheumatic diseases, 2015-03, Vol.74 (3), p.e17-e17
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Rivière, Jean-Baptiste ; van Bon, Bregje W M ; Hoischen, Alexander ; Kholmanskikh, Stanislav S ; O'Roak, Brian J ; Gilissen, Christian ; Gijsen, Sabine ; Sullivan, Christopher T ; Christian, Susan L ; Abdul-Rahman, Omar A ; Atkin, Joan F ; Chassaing, Nicolas ; Drouin-Garraud, Valerie ; Fry, Andrew E ; Fryns, Jean-Pierre ; Gripp, Karen W ; Kempers, Marlies ; Kleefstra, Tjitske ; Mancini, Grazia M S ; Nowaczyk, Małgorzata J M ; van Ravenswaaij-Arts, Conny M A ; Roscioli, Tony ; Marble, Michael ; Rosenfeld, Jill A ; Siu, Victoria M ; de Vries, Bert B A ; Shendure, Jay ; Verloes, Alain ; Veltman, Joris A ; Brunner, Han G ; Ross, M Elizabeth ; Pilz, Daniela T ; Dobyns, William B
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2012-04, Vol.44 (4), p.440-444
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Sürün, Duran ; Schneider, Aksana ; Mircetic, Jovan ; Neumann, Katrin ; Lansing, Felix ; Paszkowski-Rogacz, Maciej ; Hänchen, Vanessa ; Lee-Kirsch, Min Ae ; Buchholz, Frank
      Publisher:Switzerland: MDPI
      Journal title:Genes, 2020-05, Vol.11 (5), p.511
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Marsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J ; Quartier, Angélique ; Galea, Charles ; Nava, Caroline ; Rastetter, Agnès ; Moutard, Marie-Laure ; Anderson, Vicki ; Bitoun, Pierre ; Bunt, Jens ; Faudet, Anne ; Garel, Catherine ; Gillies, Greta ; Gobius, Ilan ; Guegan, Justine ; Heide, Solveig ; Keren, Boris ; Lesne, Fabien ; Lukic, Vesna ; Mandelstam, Simone A ; McGillivray, George ; McIlroy, Alissandra ; Méneret, Aurélie ; Mignot, Cyril ; Morcom, Laura R ; Odent, Sylvie ; Paolino, Annalisa ; Pope, Kate ; Riant, Florence ; Robinson, Gail A ; Spencer-Smith, Megan ; Srour, Myriam ; Stephenson, Sarah E M ; Tankard, Rick ; Trouillard, Oriane ; Welniarz, Quentin ; Wood, Amanda ; Brice, Alexis ; Rouleau, Guy ; Attié-Bitach, Tania ; Delatycki, Martin B ; Mandel, Jean-Louis ; Amor, David J ; Roze, Emmanuel ; Piton, Amélie ; Bahlo, Melanie ; Billette de Villemeur, Thierry ; Sherr, Elliott H ; Leventer, Richard J ; Richards, Linda J ; Lockhart, Paul J ; Depienne, Christel
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature genetics, 2017-04, Vol.49 (4), p.511-514
      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 to excel
    • Print

      • Export record to excel

      File type to download

      Beta version
      ArticlesPeer ReviewedFull Text

      Author / Creator:Nakahama, Taisuke ; Kawahara, Yukio
      Publisher:Cham: Springer International Publishing
      Journal title:Cellular and molecular life sciences : CMLS, 2020-08, Vol.77 (15), p.2931-2948
      View online as a Library member
      Access ebook if you are in the Library. Registered NSW residents may log in from home.
    Showing 1 to 20 of 211 results