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المؤلفون: Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
المصدر: European Journal of Human Genetics, 31, 3, pp. 345-352
European Journal of Human Genetics, 31, 345-352مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Denise Horn, Anna-Elina Lehesjoki, Janina Gburek-Augustat, Amarilis Sanchez-Valle, Kenjiro Kosaki, Katherine Anderson, Anna-Kaisa Anttonen, Tohru Ishitani, Katja Kloth, Manuel Holtgrewe, Sora Harako, Rhonda E. Schnur, Maria J. Guillen Sacoto, Yutaka Hirose, Seiji Mizuno, Shizuka Ishitani, Kota Abe, Tadashi Kaname, Yusaku Kaido, Johannes Luppe, Nadja Ehmke, Michelle M. Morrow, John Pappas, Tatjana Bierhals, Masayuki Oginuma, David Viskochil, Yoshiaki Ohkuma, Tomoko Uehara, Konrad Platzer, Courtney L. Edgar-Zarate, Rachel Rabin, Yuri A. Zarate, Mikko Muona, Nobuhiko Okamoto
المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Anna-Elina Lehesjoki / Principal Investigator, Neuroscience Center, Helsinki University Hospital Area
المصدر: Genetics in Medicine. 23:1050-1057
مصطلحات موضوعية: 0301 basic medicine, GENES, CDK8, Mutation, Missense, PROTEIN, 030105 genetics & heredity, SEQUENCE, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, medicine, Animals, Humans, Missense mutation, Kinase activity, Zebrafish, Genetics (clinical), Loss function, MEDIATOR COMPLEX, Genetics, biology, Autophosphorylation, Infant, biology.organism_classification, medicine.disease, Cyclin-Dependent Kinases, Hypotonia, MED12, 030104 developmental biology, Protein kinase domain, Neurodevelopmental Disorders, Gain of Function Mutation, 3111 Biomedicine, medicine.symptom
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المؤلفون: Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3a73787ad5f389ab6869a9751b462d1d
https://doi.org/10.1101/2022.04.20.22274073 -
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المؤلفون: Nina Bögershausen, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B. Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R. Lemke, Yun Li, Martin Zenker, Gaurav K. Varshney, Hauke S. Hillen, Christian P. Kratz, Bernd Wollnik
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)
المصدر: Human Mutations
Human mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Human Mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller, J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, ' WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ', Human Mutation, vol. 43, no. 10, pp. 1454-1471 . https://doi.org/10.1002/humu.24430مصطلحات موضوعية: aminoacylation, SARS1, Tryptophan-tRNA Ligase, WARS1, Amino Acyl-tRNA Synthetases, Ligases, RNA, Transfer, intellectual disability, Charcot-Marie-Tooth Disease, Genetics, Microcephaly, Animals, Humans, aminoacyl-tRNA synthetase, Technology Platforms, ARS, CRISPR/Cas9, tRNA, Genetics (clinical), Zebrafish
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المؤلفون: Anna R. Duncan, Tatjana Bierhals, Michael Pusch, Pamela Hawley, Amy Kritzer, Dagmar Wieczorek, Emanuele Agolini, Causes Study, Antonio Novelli, Raúl Estévez, Thomas J. Jentsch, Patricia Ellen Grant, Konrad Platzer, Margarete Koch-Hogrebe, Héctor Gaitán-Peñas, Andrea Maiorana, Anne H. O’Donnell-Luria, Johannes Luppe, Klaus Schmitz-Abe, Giovanna Stefania Colafati, Elliott H. Sherr, Pankaj B. Agrawal, Zaheer Valivullah, Elaina M England, Cornelius F. Boerkoel, Alysia Kern Lovgren, Lorne A. Clarke, Grace E. VanNoy, Emanuela Argilli, Kimberly Seath, Sara Bertelli, Maja Hempel, Anna Lehman, Thilo Diel, Maya M. Polovitskaya, Jill A. Madden, Yvette van Ierland, Rami Abou Jamra, Juanita Neira-Fresneda, Paolo Alfieri
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 108(8), 1450-1465. Cell Press
Am J Hum Genet
American journal of human genetics, vol 108, iss 8مصطلحات موضوعية: Male, hippocampus, gain of function, Xenopus, Medical and Health Sciences, Ion Channels, acidification, Mice, 2.1 Biological and endogenous factors, Missense mutation, Global developmental delay, Aetiology, Agenesis of the corpus callosum, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, Mice, Knockout, Neurodegeneration, Homozygote, Biological Sciences, pH sensitivity, Phenotype, Mental Health, intellectual disability, voltage gated chloride channel, Child, Preschool, Neurological, Female, Adolescent, Knockout, Intellectual and Developmental Disabilities (IDD), Biology, neurodevelopmental delay, Article, Frameshift mutation, CAUSES Study, SDG 3 - Good Health and Well-being, Chloride Channels, medicine, Animals, Humans, Preschool, Gene, Animal, Neurosciences, Infant, Newborn, Infant, Newborn, CLCN, medicine.disease, biology.organism_classification, Brain Disorders, Disease Models, Animal, Neurodevelopmental Disorders, Disease Models, Mutation
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19ddf58038b016a5c46da7b4d76ed08
https://pure.eur.nl/en/publications/d1b341d3-fea8-47ac-9ac3-b9d8d2d13e1e
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