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1دورية 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
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A. Bernier, Evan E. Eichler, Kun Xia
المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Autism spectrum disorders, Targeted sequencing, De novo mutations, Multiple hit, Multifactorial model, Genotype–phenotype relationship, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13229-018-0247-zTest; https://doaj.org/toc/2040-2392Test
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المؤلفون: Lu Xia, Yalan Liu, Yaowen Zhang, Rongjuan Zhao, Yu Peng, Taoxi Li, Cenying Liu, Lu Shen, Jingjing Chen, Sanchuan Luo, Kun Xia
المصدر: Journal of Psychiatric Research. 143:113-122
مصطلحات موضوعية: Genetics, Autism Spectrum Disorder, Calcium-Binding Proteins, Mutation, Missense, Synaptogenesis, Protein degradation, Biology, medicine.disease, Phenotype, In vitro, Pathogenesis, Psychiatry and Mental health, Proteolysis, medicine, Animals, Humans, Autism, Missense mutation, Drosophila, Autistic Disorder, Sleep, Neural Cell Adhesion Molecules, Biological Psychiatry, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120b1db0db6c36d46f0bad18adee6fa8Test
https://doi.org/10.1016/j.jpsychires.2021.09.013Test -
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المؤلفون: Sajid Malik, Shanshan Dong, Muhammad Talal Alrifai, Abdulrahman Alswaid, Xinyi Yang, Rongjuan Zhao, Marwan Nashabat, Christian Beetz, Lu Shen, Qi Tian, Jifeng Guo, Rizwan Hasan Khan, Qiumeng Zhang, Zhengmao Hu, Majid Alfadhel, Huidan Wu, Tengfei Zhu, Gaber Bergant, Yan Qin, Hui Guo, Linya Ma, Reza Maroofian, Ashfaque Ahmed, Borut Peterlin, Cenying Liu, Kun Xia, Karin Writzl, Meng Wang, Wafaa Eyaid, Lea Leonardis, Abid Ali Shah, Beisha Tang, Lu Xia
المصدر: Human Genetics. 140:579-592
مصطلحات موضوعية: Genetics, 0303 health sciences, 030305 genetics & heredity, Locus (genetics), Consanguinity, Biology, Frameshift mutation, 03 medical and health sciences, Genetic linkage, Allele, Genetics (clinical), Exome sequencing, Loss function, 030304 developmental biology, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::336369fc820085b5d151b736e48ccee5Test
https://doi.org/10.1007/s00439-020-02226-3Test -
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المؤلفون: Charles E. Schwartz, Marjolein H. Willemsen, Saadet Mercimek-Andrews, Amy B. Wilfert, Hugo J. Bellen, Alexander P.A. Stegmann, Tjitske Kleefstra, Pawel Stankiewicz, Benjamin Büttner, Hailun Ni, Rongjuan Zhao, Rami Abou Jamra, Mariëtte J.V. Hoffer, Kristin Herman, Marjan M. Weiss, Heather C Mefford, Huidan Wu, Deanna J. Erwin, Zhengmao Hu, Claudia A. L. Ruivenkamp, Helger G. Yntema, Cindy Colson, Alessandra Murgia, Maria Bottitta, Jane Juusola, Tianyun Wang, Stephen M. Malone, Kun Xia, Baosheng Zhu, Nicolas Richard, Jozef Gecz, Elisa Bettella, Tuula Rinne, Raphael Bernier, Emilia K. Bijlsma, Michael F. Wangler, Shinya Yamamoto, Brigid M. Regan, Sharayu Jangam, Bregje W.M. van Bon, Jill A. Rosenfeld, Kendra Hoekzema, Cenying Liu, Shweta U. Dhar, Stefano Sartori, Boris Keren, Hui Guo, Lucia Castiglia, Servi J. C. Stevens, Corrado Romano, Min Long, Tomasz J. Nowakowski, Evan E. Eichler, Jan Maarten Cobben, Alison M. Muir, Lisa Emrick, Quinten Waisfisz, Wenjing Zhao, Jonathan C. Andrews, Ingrid E. Scheffer, Bing Bai, Madelyn A. Gillentine, Paul C. Marcogliese, Fan Xia, Han G. Brunner, Alexandra Afenjar
المساهمون: Academic Medical Center, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Klinische Genetica, Chinese Academy of Forestry, University Hospital of Padua, Baylor College of Medicine (BCM), Baylor University, Texas Children's Hospital [Houston, USA], Central South University [Changsha], University of California, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Radboud University Medical Center [Nijmegen], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Ecosystèmes méditerranéens et risques (UR EMAX), Centre national du machinisme agricole, du génie rural, des eaux et forêts (CEMAGREF), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), The Greenwood Genetic Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Kunming University of Science and Technology (KMUST), The Hospital for sick children [Toronto] (SickKids), University of Toronto, GeneDx [Gaithersburg, MD, USA], Universität Leipzig [Leipzig], University of Melbourne, Queensland Institute of Medical Research, University of Adelaide, Emma Children’s Hospital, Vrije Universiteit Amsterdam [Amsterdam] (VU), Leiden University Medical Center (LUMC), The Chinese University of Hong Kong [Hong Kong], Human genetics
المصدر: Guo, H, Bettella, E, Marcogliese, P C, Zhao, R, Andrews, J C, Nowakowski, T J, Gillentine, M A, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, M H, van Bon, B W, Rinne, T, Stevens, S J C, Kleefstra, T, Brunner, H G, Yntema, H G, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, C E, Romano, C, Castiglia, L, Bottitta, M, Dhar, S U, Erwin, D J, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Nickerson, D A, Bamshad, M J, Mercimek-Andrews, S, Juusola, J, Wilfert, A B, Abou Jamra, R, Büttner, B, Mefford, H C, Muir, A M, Scheffer, I E, Regan, B M, Malone, S, Gecz, J, Cobben, J, Weiss, M M, Waisfisz, Q, Bijlsma, E K, Hoffer, M J V, Ruivenkamp, C A L, Sartori, S, Xia, F, Rosenfeld, J A, Bernier, R A, Wangler, M F, Yamamoto, S, Xia, K, Stegmann, A P A, Bellen, H J, Murgia, A, Eichler, E E & University of Washington Center for Mendelian Genomics 2019, ' Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders ', Nature Communications, vol. 10, no. 1, 4679 . https://doi.org/10.1038/s41467-019-12435-8Test
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Nature Communications, 10
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature communications, 10(1):4679. Nature Publishing Group
Nature Communications, 10:4679. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Nature Communications, 10(1):4679. Nature Publishing Group UKمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Genetics of the nervous system, Developmental Disabilities, General Physics and Astronomy, Muscle Proteins, medicine.disease_cause, ANNOTATION, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Whole Exome Sequencing, Craniofacial Abnormalities, Epilepsy, 0302 clinical medicine, Postsynaptic potential, Intellectual disability, Drosophila Proteins, lcsh:Science, Child, SYNAPTIC DEVELOPMENT, Neurons, Mutation, Multidisciplinary, Behavior, Animal, Mental Disorders, Brain, Drosophila melanogaster, Child, Preschool, Behavioural genetics, Excitatory postsynaptic potential, Female, Neuroglia, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, GENES, Adolescent, Science, Nerve Tissue Proteins, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, RESOURCE, Intellectual Disability, Exome Sequencing, medicine, Animals, Humans, Language Development Disorders, Autistic Disorder, Psychiatry, Preschool, [SDV.GEN]Life Sciences [q-bio]/Genetics, Behavior, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Animal, MEMORY, Membrane Proteins, Proteins, General Chemistry, medicine.disease, FRAMEWORK, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Neuronal development, Autism, lcsh:Q, business, Postsynaptic density, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef65fc059436750efb3c5a1fb922c24Test
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdaeTest -
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المؤلفون: Corrado Romano, Magnus Nordenskjöld, Tianyun Wang, Min Long, Suneeta Madan-Khetarpal, Evan E. Eichler, Jingping Zhao, Mengzhu Ou, Wei Xie, Yu Zhang, Kirsty McWalter, Chanika Phornphutkul, Kristin G. Monaghan, Koen L.I. van Gassen, Grazia M.S. Mancini, Zhengmao Hu, Madelyn A. Gillentine, Jessica Sebastian, Ying Li, Yaowen Zhang, Jieqiong Tan, Robert J. Hopkin, Kendra Hoekzema, Jozef Gecz, Lu Shen, Meilin Chen, Zhi-Qing David Xu, Carlos E. Prada, Alexander P.A. Stegmann, Judith D. Ranells, Hailun Ni, Ting Bai, Kuokuo Li, Tengfei Zhu, Joseph T. Shieh, Robert B. Hufnagel, Darius J. Adams, Lijuan Liu, Anna Lindstrand, Daryl A. Scott, Huidan Wu, Yingting Quan, Kun Xia, Melissa Racobaldo, J Peng, Mahshid Azamian, Raphael Bernier, Rongjuan Zhao, E. Haan, Fan Xia, Pengwei Peng, Nan Pang, Malin Kvarnung, Honghui Li, Xiangbin Jia, Seema R. Lalani, Jill A. Rosenfeld, Qiumeng Zhang, Susie Ball, Lin Han, Hui Guo, Ikeoluwa A. Osei-Owusu, Giuseppe Calabrese, Ornella Galesi, Tao Xu, Xiaobing Zou, Ann Nordgren, Yaning Liu, Pengfei Liu, Cenying Liu, Jonathan Pevsner, Bert B.A. de Vries, Peter M. van Hasselt
المساهمون: Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Science advances, 5(9):eaax2166. American Association for the Advancement of Science
Science Advances, 5
Science advances, 5(9). American Association for the Advancement of Science
Science Advances
Science advances, 5(9):2166. American Association for the Advancement of Science
Science Advances, 5, 9مصطلحات موضوعية: Male, Dendritic spine, Diseases and Disorders, RNA-binding protein, Synaptic Transmission, Synapse, Mice, 0302 clinical medicine, Child, Non-U.S. Gov't, Research Articles, Neurons, RISK, 0303 health sciences, Gene knockdown, ARCHITECTURE, Multidisciplinary, Research Support, Non-U.S. Gov't, SciAdv r-articles, RNA-Binding Proteins, MENTAL-RETARDATION PROTEIN, 3. Good health, Pedigree, Fragile X syndrome, DNA-Binding Proteins, DROSOPHILA, Phenotype, Child, Preschool, Female, MESSENGER-RNA, Research Article, GENES, Neurite, Adolescent, Neurogenesis, Neurotransmission, Biology, Research Support, behavioral disciplines and activities, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, mental disorders, medicine, Journal Article, Animals, Humans, Genetic Predisposition to Disease, FRAGILE-X-SYNDROME, Autistic Disorder, Preschool, Genetic Association Studies, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, Animal, Genetic Variation, Extramural, Human Genetics, medicine.disease, Disease Models, Animal, DE-NOVO MUTATION, Genetic Loci, Synapses, Disease Models, Autism, TRANSLATION, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf; image/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c056d43ff91ad737a8f3c15670359e7aTest
https://pure.eur.nl/en/publications/041bde98-7c94-4502-aa95-fb6ae749d166Test -
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المؤلفون: Jieqiong Tan, Yun Li, Wei Su, Jianjun Ou, Lin Han, Yanling Liu, Lu Shen, Min Long, Kun Xia, Cenying Liu, Raphael Bernier, Carl Baker, Ting Bai, Yidong Shen, Nan Pang, Ningxia Zhao, Xiangbin Jia, Guiqin Duan, Evan E. Eichler, Yazhe Wang, Xiaogang Du, Jingjing Chen, Huidan Wu, Biyuan Chen, Xinyi Yang, Rongjuan Zhao, Yu Zhang, Bradley P. Coe, Qian Pan, Meiling Yao, Lu Xia, Jingping Zhao, Lian Huang, Honghui Li, J Peng, Xiaobing Zou, Ying Li, Hui Guo, Tianyun Wang, Zhigao Long, Guanglei Xun, Wenjing Zhao, Xiaoyan Ke, Zhengmao Hu, Hailun Ni
المصدر: Molecular Autism
Molecular Autism, Vol 9, Iss 1, Pp 1-12 (2018)مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Multifactorial Inheritance, Candidate gene, Autism Spectrum Disorder, Genotype–phenotype relationship, Quantitative Trait Loci, Biology, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Humans, Child, Molecular Biology, Gene, Exome, lcsh:Neurology. Diseases of the nervous system, Genetics, De novo mutations, Models, Genetic, Research, Macrocephaly, Multiple hit, Autism spectrum disorders, medicine.disease, Phenotype, Human genetics, Pedigree, Multifactorial model, 3. Good health, Psychiatry and Mental health, 030104 developmental biology, Mutation, Targeted sequencing, Autism, Female, medicine.symptom, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd318c993962f20d47ce7dd9158cd80Test
https://doi.org/10.1186/s13229-018-0247-zTest -
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المؤلفون: Guo, Hui, Tianyun Wang, Huidan Wu, Long, Min, Coe, Bradley, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Bai, Ting, Ningxia Zhao, Yidong Shen, Li, Yun, Yazhe Wang, Zhang, Yu, Baker, Carl, Yanling Liu, Pang, Nan, Huang, Lian, Han, Lin, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Xia, Lu, Jingjing Chen, Shen, Lu, Li, Ying, Rongjuan Zhao, Wenjing Zhao, Peng, Jing, Pan, Qian, Zhigao Long, Su, Wei, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Bernier, Raphael, Eichler, Evan, Xia, Kun
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072dcf3b9c69e989faa6f24a73b02febTest
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المؤلفون: Guo, Hui, Tianyun Wang, Huidan Wu, Long, Min, Coe, Bradley, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Bai, Ting, Ningxia Zhao, Yidong Shen, Li, Yun, Yazhe Wang, Zhang, Yu, Baker, Carl, Yanling Liu, Pang, Nan, Huang, Lian, Han, Lin, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Xia, Lu, Jingjing Chen, Shen, Lu, Li, Ying, Rongjuan Zhao, Wenjing Zhao, Peng, Jing, Pan, Qian, Zhigao Long, Su, Wei, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Bernier, Raphael, Eichler, Evan, Xia, Kun
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::384a22ff916d267541a4ddfea4aa452bTest
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المؤلفون: Guo, Hui, Tianyun Wang, Huidan Wu, Long, Min, Coe, Bradley, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Bai, Ting, Ningxia Zhao, Yidong Shen, Li, Yun, Yazhe Wang, Zhang, Yu, Baker, Carl, Yanling Liu, Pang, Nan, Huang, Lian, Han, Lin, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Xia, Lu, Jingjing Chen, Shen, Lu, Li, Ying, Rongjuan Zhao, Wenjing Zhao, Peng, Jing, Pan, Qian, Zhigao Long, Su, Wei, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Bernier, Raphael, Eichler, Evan, Xia, Kun
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376fbb8cf63c1d3de36ebf69bec6a898Test