-
1دورية أكاديمية
المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield, Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/364681d5e75041ca8dc96c630c12c069Test
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520Test
https://doaj.org/article/364681d5e75041ca8dc96c630c12c069Test -
2دورية أكاديمية
المؤلفون: Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423001887Test; https://doaj.org/toc/2949-7744Test; https://doaj.org/article/63607ac1340c4282b5f0385f8b733957Test
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100188Test
https://doaj.org/article/63607ac1340c4282b5f0385f8b733957Test -
3دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
العلاقة: https://doi.org/10.1172/JCI165019Test; https://doaj.org/toc/1558-8238Test; https://doaj.org/article/47a113198d5649e88315ddec99f2067fTest
-
4دورية أكاديمية
المؤلفون: Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
المصدر: JCI Insight, Vol 8, Iss 22 (2023)
العلاقة: https://doi.org/10.1172/jci.insight.170079Test; https://doaj.org/toc/2379-3708Test; https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507Test
-
5دورية أكاديمية
المؤلفون: Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-023-42531-9Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/b6807c8412374d2aa25e893290d2b4c6Test
الإتاحة: https://doi.org/10.1038/s41467-023-42531-9Test
https://doaj.org/article/b6807c8412374d2aa25e893290d2b4c6Test -
6دورية أكاديمية
المؤلفون: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium
المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage, Medicine, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s40246-023-00485-5Test; https://doaj.org/toc/1479-7364Test; https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975Test
الإتاحة: https://doi.org/10.1186/s40246-023-00485-5Test
https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975Test -
7دورية أكاديمية
المؤلفون: Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 8001
مصطلحات موضوعية: JARID2, developmental disorder, DNA methylation, epigenetics, episignature
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23148001Test
-
8دورية أكاديمية
المؤلفون: Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: NGS-based resequencing, Systematic reanalysis, Rare disease, Diagnostic implementation of recommended ACMG guideline, Longitudinal follow-up of systematic cohort, Medicine, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s13073-022-01069-zTest; https://doaj.org/toc/1756-994XTest; https://doaj.org/article/444b339bc7834262a4908fed8af18424Test
الإتاحة: https://doi.org/10.1186/s13073-022-01069-zTest
https://doaj.org/article/444b339bc7834262a4908fed8af18424Test -
9دورية أكاديمية
المؤلفون: Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp-Versteeg, Rolph Pfundt, Nicole de Leeuw, Aparecido Divino da Cruz, Lysa Bernardes Minasi
المصدر: PLoS ONE, Vol 17, Iss 4, p e0266493 (2022)
العلاقة: https://doi.org/10.1371/journal.pone.0266493Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/1f458991ad8b4c6198934dafb8ddf06dTest
الإتاحة: https://doi.org/10.1371/journal.pone.0266493Test
https://doaj.org/article/1f458991ad8b4c6198934dafb8ddf06dTest -
10دورية أكاديمية
المؤلفون: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj
المصدر: HGG Advances, Vol 3, Iss 4, Pp 100122- (2022)
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000380Test; https://doaj.org/toc/2666-2477Test; https://doaj.org/article/2933846d32ba4a2faa49561ba57d523cTest
الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100122Test
https://doaj.org/article/2933846d32ba4a2faa49561ba57d523cTest