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1دورية أكاديمية
المؤلفون: Bart C Jongbloets, Koen L I van Gassen, Anne A Kan, Anneke H O Olde Engberink, Marina de Wit, Inge G Wolterink-Donselaar, Marian J A Groot Koerkamp, Onno van Nieuwenhuizen, Frank C P Holstege, Pierre N E de Graan
المصدر: PLoS ONE, Vol 10, Iss 12, p e0145247 (2015)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
مصطلحات موضوعية: Neurodevelopmental disorders, hnRNPs, Cortex development, Gene families, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3دورية أكاديمية
المؤلفون: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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4دورية أكاديمية
المؤلفون: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5
المؤلفون: Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron
المساهمون: Pediatrics, Faculty of Law and Criminology
المصدر: JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79مصطلحات موضوعية: Research Report, medicine.medical_specialty, hemolytic‐uremic syndrome, Homocysteine, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Methylmalonic acid, Neurological examination, methylmalonic aciduria, Lower risk, Biochemistry, Genetics and Molecular Biology (miscellaneous), Cobalamin, Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, early onset cobalamin metabolism defects, subcutaneous injection port, chemistry.chemical_compound, Internal medicine, Internal Medicine, medicine, Journal Article, parenteral hydroxocobalamin dose intensification, lcsh:RC648-665, medicine.diagnostic_test, business.industry, Généralités, Research Reports, homocysteine, Hydroxocobalamin, methylmalonic aciduria with homocystinuria, lcsh:Genetics, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Tolerability, chemistry, hemolytic-uremic syndrome, CBLC, business, medicine.drug
وصف الملف: Electronic-eCollection; 1 full-text file(s): application/pdf; application/pdf; image/pdf; text/plain
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6
المؤلفون: Miroslav P, Milev, Claudio, Graziano, Daniela, Karall, Willemijn F E, Kuper, Noraldin, Al-Deri, Duccio Maria, Cordelli, Tobias B, Haack, Katharina, Danhauser, Arcangela, Iuso, Flavia, Palombo, Tommaso, Pippucci, Holger, Prokisch, Djenann, Saint-Dic, Marco, Seri, Daniela, Stanga, Giovanna, Cenacchi, Koen L I, van Gassen, Johannes, Zschocke, Christine, Fauth, Johannes A, Mayr, Michael, Sacher, Peter M, van Hasselt
المصدر: Journal of medical genetics. 55(11)
مصطلحات موضوعية: Adolescent, Genotype, Biopsy, DNA Mutational Analysis, Mutation, Missense, Fibroblasts, Magnetic Resonance Imaging, Protein Transport, Phenotype, Neurodevelopmental Disorders, rab GTP-Binding Proteins, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Alleles, Biomarkers, Genetic Association Studies
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7
المؤلفون: Monique G M, de Sain-van der Velden, Willemijn F E, Kuper, Marie-Anne, Kuijper, Lenneke A T, van Kats, Hubertus C M T, Prinsen, Astrid C J, Balemans, Gepke, Visser, Koen L I, van Gassen, Peter M, van Hasselt
المصدر: JIMD reports. 42
مصطلحات موضوعية: endocrine system, Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72678a9f91955b7f75613a0d4839835e
https://pubmed.ncbi.nlm.nih.gov/29380259 -
8دورية أكاديمية
المؤلفون: Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans
المصدر: Metabolites, Vol 10, Iss 5, p 206 (2020)
مصطلحات موضوعية: cross-omics, untargeted metabolomics, genomics, diagnostics, data integration, next-generation sequencing, Microbiology, QR1-502
وصف الملف: electronic resource