41 results for Joset,+Pascal

41 results for Joset,+Pascal

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:Lieberwirth, Johann Kaspar ; Joset, Pascal ; Heinze, Anja ; Hentschel, Julia ; Stein, Anja ; Iannaccone, Antonella ; Steindl, Katharina ; Kuechler, Alma ; Abou Jamra, Rami
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.808-815
    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:Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas ; Reijnders, Margot R. F. ; Willemsen, Marjolein H. ; Ruiterkamp-Versteeg, Martina ; Schepens, Marga ; Man, Calvin C. O. ; Gilissen, Christian ; Cho, Megan T. ; McWalter, Kirsty ; Sinnema, Margje ; Wheless, James W. ; Simon, Marleen E. H. ; Genetti, Casie A. ; Casey, Alicia M. ; Terhal, Paulien A. ; van der Smagt, Jasper J. ; van Gassen, Koen L. I. ; Joset, Pascal ; Bahr, Angela ; Steindl, Katharina ; Rauch, Anita ; Keller, Elmar ; Raas-Rothschild, Annick ; Koolen, David A. ; Agrawal, Pankaj B. ; Hoffman, Trevor L. ; Powell-Hamilton, Nina N. ; Thiffault, Isabelle ; Engleman, Kendra ; Zhou, Dihong ; Bodamer, Olaf ; Hoefele, Julia ; Riedhammer, Korbinian M. ; Schwaibold, Eva M. C. ; Tasic, Velibor ; Schubert, Dirk ; Top, Deniz ; Pfundt, Rolph ; Higgs, Martin R. ; Kramer, Jamie M. ; Kleefstra, Tjitske
    Publisher:London: Nature Publishing Group UK
    Journal title:Molecular psychiatry, 2021-06, Vol.26 (6), p.2013-2024
    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:Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina ; Oneda, Beatrice ; Gogoll, Laura ; Azzarello-Burri, Silvia ; Sheth, Frenny ; Datar, Chaitanya ; Verma, Ishwar C. ; Puri, Ratna Dua ; Zollino, Marcella ; Bachmann-Gagescu, Ruxandra ; Niedrist, Dunja ; Papik, Michael ; Figueiro-Silva, Joana ; Masood, Rahim ; Zweier, Markus ; Kraemer, Dennis ; Lincoln, Sharyn ; Rodan, Lance ; Passemard, Sandrine ; Drunat, Séverine ; Verloes, Alain ; Horn, Anselm H.C. ; Sticht, Heinrich ; Steinfeld, Robert ; Plecko, Barbara ; Latal, Beatrice ; Jenni, Oskar ; Asadollahi, Reza ; Rauch, Anita
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2043-2058
    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:Abela, Lucia ; Spiegel, Ronen ; Crowther, Lisa M. ; Klein, Andrea ; Steindl, Katharina ; Papuc, Sorina Mihaela ; Joset, Pascal ; Zehavi, Yoav ; Rauch, Anita ; Plecko, Barbara ; Simmons, Thomas Luke
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2017-05, Vol.12 (5), p.e0176363-e0176363
    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:Zweier, Markus ; Begemann, Anaïs ; McWalter, Kirsty ; Cho, Megan T. ; Abela, Lucia ; Banka, Siddharth ; Behring, Bettina ; Berger, Andrea ; Brown, Chester W. ; Carneiro, Maryline ; Chen, Jiani ; Cooper, Gregory M. ; Finnila, Candice R. ; Guillen Sacoto, Maria J. ; Henderson, Alex ; Hüffmeier, Ulrike ; Joset, Pascal ; Kerr, Bronwyn ; Lesca, Gaetan ; Leszinski, Gloria S. ; McDermott, John Henry ; Meltzer, Meira R. ; Monaghan, Kristin G. ; Mostafavi, Roya ; Õunap, Katrin ; Plecko, Barbara ; Powis, Zöe ; Purcarin, Gabriela ; Reimand, Tiia ; Riedhammer, Korbinian M. ; Schreiber, John M. ; Sirsi, Deepa ; Wierenga, Klaas J. ; Wojcik, Monica H. ; Papuc, Sorina M. ; Steindl, Katharina ; Sticht, Heinrich ; Rauch, Anita
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.747-759
    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:Lieberwirth, Johann Kaspar ; Joset, Pascal ; Heinze, Anja ; Hentschel, Julia ; Stein, Anja ; Iannaccone, Antonella ; Steindl, Katharina ; Kuechler, Alma ; Jamra, Rami Abou
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.887-887
    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:Asadollahi, Reza ; Oneda, Beatrice ; Joset, Pascal ; Azzarello-Burri, Silvia ; Bartholdi, Deborah ; Steindl, Katharina ; Vincent, Marie ; Cobilanschi, Joana ; Sticht, Heinrich ; Baldinger, Rosa ; Reissmann, Regina ; Sudholt, Irene ; Thiel, Christian T ; Ekici, Arif B ; Reis, André ; Bijlsma, Emilia K ; Andrieux, Joris ; Dieux, Anne ; FitzPatrick, David ; Ritter, Susanne ; Baumer, Alessandra ; Latal, Beatrice ; Plecko, Barbara ; Jenni, Oskar G ; Rauch, Anita
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.677-688
    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:Asadollahi, Reza ; Oneda, Beatrice ; Sheth, Frenny ; Azzarello-Burri, Silvia ; Baldinger, Rosa ; Joset, Pascal ; Latal, Beatrice ; Knirsch, Walter ; Desai, Soaham ; Baumer, Alessandra ; Houge, Gunnar ; Andrieux, Joris ; Rauch, Anita
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1100-1104
    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:Grether, Anna ; Ivanovski, Ivan ; Russo, Martina ; Begemann, Anaïs ; Steindl, Katharina ; Abela, Lucia ; Papik, Michael ; Zweier, Markus ; Oneda, Beatrice ; Joset, Pascal ; Rauch, Anita
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2148-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:Asadollahi, Reza ; Britschgi, Christian ; Joset, Pascal ; Oneda, Beatrice ; Schindler, Detlev ; Meier, Urs R. ; Rauch, Anita
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1409-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:Boonsawat, Paranchai ; Horn, Anselm H. C. ; Steindl, Katharina ; Baumer, Alessandra ; Joset, Pascal ; Kraemer, Dennis ; Bahr, Angela ; Ivanovski, Ivan ; Cabello, Elena M. ; Papik, Michael ; Zweier, Markus ; Oneda, Beatrice ; Sirleto, Pietro ; Burkhardt, Tilo ; Sticht, Heinrich ; Rauch, Anita
    Publisher:London: Nature Publishing Group UK
    Journal title:Npj genomic medicine, 2022-07, Vol.7 (1), p.45-45, Article 45
    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:Pekarik, Vladimir ; Bourikas, Dimitris ; Miglino, Nicola ; Joset, Pascal ; Preiswerk, Stephan ; Stoeckli, Esther T.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature biotechnology, 2003-01, Vol.21 (1), p.93-96
    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:Joset, Pascal ; Wacker, Andrin ; Babey, Régis ; Ingold, Esther A ; Andermatt, Irwin ; Stoeckli, Esther T ; Gesemann, Matthias
    Publisher:England: BioMed Central Ltd
    Journal title:Neural development, 2011-05, Vol.6 (1), p.22-22, Article 22
    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:Vintschger, Ella ; Kraemer, Dennis ; Joset, Pascal ; Horn, Anselm H. C. ; Rauch, Anita ; Sticht, Heinrich ; Bachmann-Gagescu, Ruxandra
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.953-961
    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:Plecko, Barbara ; Zweier, Markus ; Begemann, Anaïs ; Mathis, Deborah ; Schmitt, Bernhard ; Striano, Pasquale ; Baethmann, Martina ; Vari, Maria Stella ; Beccaria, Francesca ; Zara, Federico ; Crowther, Lisa M ; Joset, Pascal ; Sticht, Heinrich ; Papuc, Sorina Mihaela ; Rauch, Anita
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2017-12, Vol.54 (12), p.809-814
    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:Rauch, Anita, Prof ; Wieczorek, Dagmar, MD ; Graf, Elisabeth, MSc ; Wieland, Thomas, MSc ; Endele, Sabine, PhD ; Schwarzmayr, Thomas, MSc ; Albrecht, Beate, MD ; Bartholdi, Deborah, MD ; Beygo, Jasmin, MSc ; Di Donato, Nataliya, MD ; Dufke, Andreas, MD ; Cremer, Kirsten, MD ; Hempel, Maja, MD ; Horn, Denise, MD ; Hoyer, Juliane, MD ; Joset, Pascal, PhD ; Röpke, Albrecht, PhD ; Moog, Ute, MD ; Riess, Angelika, MD ; Thiel, Christian T, MD ; Tzschach, Andreas, MD ; Wiesener, Antje, MD ; Wohlleber, Eva, MD ; Zweier, Christiane, MD ; Ekici, Arif B, PhD ; Zink, Alexander M, MSc ; Rump, Andreas, PhD ; Meisinger, Christa, MD ; Grallert, Harald, PhD ; Sticht, Heinrich, PhD ; Schenck, Annette, PhD ; Engels, Hartmut, PhD ; Rappold, Gudrun, Prof ; Schröck, Evelin, Prof ; Wieacker, Peter, Prof ; Riess, Olaf, Prof ; Meitinger, Thomas, Prof ; Reis, André, Prof ; Strom, Tim M, Dr
    Publisher:Kidlington: Elsevier Ltd
    Journal title:The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682
    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:Papuc, Sorina M. ; Abela, Lucia ; Steindl, Katharina ; Begemann, Anaïs ; Simmons, Thomas L. ; Schmitt, Bernhard ; Zweier, Markus ; Oneda, Beatrice ; Socher, Eileen ; Crowther, Lisa M. ; Wohlrab, Gabriele ; Gogoll, Laura ; Poms, Martin ; Seiler, Michelle ; Papik, Michael ; Baldinger, Rosa ; Baumer, Alessandra ; Asadollahi, Reza ; Kroell-Seger, Judith ; Schmid, Regula ; Iff, Tobias ; Schmitt-Mechelke, Thomas ; Otten, Karoline ; Hackenberg, Annette ; Addor, Marie-Claude ; Klein, Andrea ; Azzarello-Burri, Silvia ; Sticht, Heinrich ; Joset, Pascal ; Plecko, Barbara ; Rauch, Anita
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.408-421
    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:Zanoni, Paolo ; Steindl, Katharina ; Sticht, Heinrich ; Oneda, Beatrice ; Joset, Pascal ; Ivanovski, Ivan ; Horn, Anselm H. C. ; Cabello, Elena M. ; Laube, Julia ; Zweier, Markus ; Baumer, Alessandra ; Rauch, Anita ; Khan, Nadia
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.784-792
    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:Reuter, Miriam S ; Riess, Angelika ; Moog, Ute ; Briggs, Tracy A ; Chandler, Kate E ; Rauch, Anita ; Stampfer, Miriam ; Steindl, Katharina ; Gläser, Dieter ; Joset, Pascal ; Krumbiegel, Mandy ; Rabe, Harald ; Schulte-Mattler, Uta ; Bauer, Peter ; Beck-Wödl, Stefanie ; Kohlhase, Jürgen ; Reis, André ; Zweier, Christiane
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2017-01, Vol.54 (1), p.64-72
    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:Laugwitz, Lucia ; Seibt, Annette ; Herebian, Diran ; Peralta, Susana ; Kienzle, Imke ; Buchert, Rebecca ; Falb, Ruth ; Gauck, Darja ; Müller, Amelie ; Grimmel, Mona ; Beck-Woedel, Stefanie ; Kern, Jan ; Daliri, Karim ; Katibeh, Pegah ; Danhauser, Katharina ; Leiz, Steffen ; Alesi, Viola ; Baertling, Fabian ; Vasco, Gessica ; Steinfeld, Robert ; Wagner, Matias ; Caglayan, Ahmet Okay ; Gumus, Hakan ; Burmeister, Margit ; Mayatepek, Ertan ; Martinelli, Diego ; Tamhankar, Parag Mohan ; Tamhankar, Vasundhara ; Joset, Pascal ; Steindl, Katharina ; Rauch, Anita ; Bonnen, Penelope E ; Froukh, Tawfiq ; Groeschel, Samuel ; Krägeloh-Mann, Ingeborg ; Haack, Tobias B ; Distelmaier, Felix
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-09, Vol.59 (9), p.878-887
    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 41 results