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1دورية 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
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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2دورية أكاديمية
المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
المصدر: Genes, Vol 12, Iss 8, p 1275 (2021)
مصطلحات موضوعية: ARID1B, Coffin–Siris syndrome, ACMG guidelines, inherited, familial, variable expression, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480 -
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المؤلفون: Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F.H. Engelke, Leo A.J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W. van Bon, Erika Leenders, Elisabeth A.M. Cornelissen, Charlotte A. Haaxma, Jolanda H. Schieving, M. Estela Rubio-Gozalbo, Irene M.L.W. Körver-Keularts, Lara M. Marten, Susann Diegmann, Jeroen Mourmans, Alexander J.M. Rennings, Clara D.M. van Karnebeek, Richard J. Rodenburg, Karlien L.M. Coene
المساهمون: Pediatrics, Graduate School, Paediatric Pulmonology, Paediatric Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Genetics in Medicine, 25(1), 125-134. Lippincott Williams and Wilkins
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134مصطلحات موضوعية: Exome sequencing, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Metabolomics, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Inborn errors of metabolism, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Functional test, Genome sequencing, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af089065fb3e1c4e83410f8c0f4dca8
https://pubmed.ncbi.nlm.nih.gov/36350326 -
6دورية أكاديمية
المؤلفون: Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
المصدر: PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
وصف الملف: electronic resource
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المؤلفون: Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
المصدر: medRxiv
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7 -
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المؤلفون: Ange-Line, Bruel, Stefania, Bigoni, Joanna, Kennedy, Margo, Whiteford, Chris, Buxton, Giulia, Parmeggiani, Matt, Wherlock, Geoff, Woodward, Mark, Greenslade, Maggie, Williams, Judith, St-Onge, Alessandra, Ferlini, Giampaolo, Garani, Elisa, Ballardini, Bregje W, van Bon, Rocio, Acuna-Hidalgo, Axel, Bohring, Jean-François, Deleuze, Anne, Boland, Vincent, Meyer, Robert, Olaso, Emmanuelle, Ginglinger, Ddd, Study, Jean-Baptiste, Rivière, Han G, Brunner, Alexander, Hoischen, Ruth, Newbury-Ecob, Laurence, Faivre, Christel, Thauvin-Robinet, Julien, Thevenon
المصدر: Journal of medical genetics. 54(12)
مصطلحات موضوعية: Male, Brain, Facies, Infant, Genes, Recessive, Autoantigens, Magnetic Resonance Imaging, Craniosynostoses, Young Adult, Phenotype, Child, Preschool, Intellectual Disability, Mutation, Humans, Female, Genetic Association Studies
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المؤلفون: Martina Proietti Onori, Balwina Koopal, David B. Everman, Jessica D. Worthington, Julie R. Jones, Melissa A. Ploeg, Edwin Mientjes, Bregje W. van Bon, Tjitske Kleefstra, Howard Schulman, Steven A. Kushner, Sébastien Küry, Ype Elgersma, Geeske M. van Woerden
المصدر: Human Mutation. 39:i-i
مصطلحات موضوعية: Genetics, Genetics (clinical)
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