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1دورية أكاديمية
المؤلفون: Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A. Bernier, Rachel K. Earl, Evangeline C. Kurtz-Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Alberto Fernandez-Jaen, Sara Alvarez, Staci D. King, Luiza L.P. Ramos, Mara Lucia S.F. Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
المصدر: The Journal of Clinical Investigation, Vol 132, Iss 19 (2022)
مصطلحات موضوعية: Genetics, Neuroscience, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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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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3دورية أكاديمية
المؤلفون: Jianbo Cheng, Zhen Wang, Manpei Tang, Wen Zhang, Guozhong Li, Senwei Tan, Chenjun Mu, Mengyuan Hu, Dan Zhang, Xiangbin Jia, Yangxuan Wen, Hui Guo, Dan Xu, Liang Liu, Jiada Li, Kun Xia, Faxiang Li, Ranhui Duan, Zhiheng Xu, Ling Yuan
المصدر: Proceedings of the National Academy of Sciences of the United States of America; 3/19/2024, Vol. 121 Issue 12, p1-21, 33p
مصطلحات موضوعية: NEURAL development, SIZE of brain, NEURONAL differentiation, NEUROBEHAVIORAL disorders, CELL proliferation
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المؤلفون: Meret Wegler, Xiangbin Jia, Marielle Alders, Arjan Bouman, Jia Chen, Xinyu Duan, Julie L. Lauzon, Inge B. Mathijssen, Heinrich Sticht, Steffen Syrbe, Senwei Tan, Hui Guo, Rami Abou Jamra
المساهمون: Human Genetics, Amsterdam Reproduction & Development (AR&D), ACS - Pulmonary hypertension & thrombosis, Clinical Genetics, Human genetics
المصدر: Genetics in medicine, 24(8), 1761-1773. Lippincott Williams and Wilkins
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams & Wilkins
Wegler, M, Jia, X, Alders, M, Bouman, A, Chen, J, Duan, X, Lauzon, J L, Mathijssen, I B, Sticht, H, Syrbe, S, Tan, S, Guo, H & Abou Jamra, R 2022, ' De novo variants in the PABP domain of PABPC1 lead to developmental delay ', Genetics in Medicine, vol. 24, no. 8, pp. 1761-1773 . https://doi.org/10.1016/j.gim.2022.04.013Test
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams and Wilkinsمصطلحات موضوعية: Heterozygote, Epilepsy, Developmental Disabilities, RNA-Binding Proteins, Poly(A)-Binding Protein I, Mice, Neurodevelopmental disorder, Neurodevelopmental Disorders, Intellectual Disability, Exome Sequencing, Animals, Humans, Exome, Neural progenitor cells, RNA, Messenger, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e098e6143e6bfafb7fdb2888ab04b973Test
http://www.scopus.com/inward/record.url?scp=85129776878&partnerID=8YFLogxKTest -
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المؤلفون: Yani He, Yuting Wang, Xiangbin Jia, Yingxue Li, Yao Yang, Lifei Pan, Rui Zhao, Yue Han, Feng Wang, Xiaoyue Guan, Tiezhou Hou
المصدر: International Immunopharmacology. 119:110192
مصطلحات موضوعية: Pharmacology, Immunology, Immunology and Allergy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::82737dd105936b1c207edf70a6c9edb2Test
https://doi.org/10.1016/j.intimp.2023.110192Test -
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المؤلفون: Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun Helen, Swoboda, Kathryn J, Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, Mcmillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A, Kurtz-Nelson, Evangeline C, Earl, Rachel K, Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thoma, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G, Morrow, Michelle M, Eichler, Evan E, Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui
المصدر: Science advances, 8(33):eabo7112. American Association for the Advancement of Science
مصطلحات موضوعية: Multidisciplinary, Animal, DNA Helicases, RNA Helicase, DNA Helicase, Stress Granule, Stress Granules, Mice, RNA Recognition Motif Proteins, Neurodevelopmental Disorders, RNA Recognition Motif Protein, Animals, Poly-ADP-Ribose Binding Proteins, RNA Helicases, Poly-ADP-Ribose Binding Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6ee0a0b2e7c1dd27774edf6d5fa7b9Test
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disordersTest(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html -
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المؤلفون: Yingxue Li, Yao Yang, Xiaoyue Guan, Zhijun Liu, Lifei Pan, Yuting Wang, Xiangbin Jia, Jianmin Yang, Tiezhou Hou
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المؤلفون: Yingxue Li, Xiaoyue Guan, Yani He, Xiangbin Jia, Lifei Pan, Yuting Wang, Yue Han, Rui Zhao, Jianmin Yang, Tiezhou Hou
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc8331dc4851ce6b3a1786767f0bc162Test
https://doi.org/10.2139/ssrn.4261737Test -
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المؤلفون: Guodong Chen, Lin Han, Senwei Tan, Xiangbin Jia, Huidan Wu, Yingting Quan, Qiumeng Zhang, Bin Yu, Zhengmao Hu, Kun Xia, Hui Guo
المصدر: Journal of genetics and genomics = Yi chuan xue bao. 49(9)
مصطلحات موضوعية: Mice, Autism Spectrum Disorder, Neurodevelopmental Disorders, Pregnancy, Intellectual Disability, Neurogenesis, Genetics, Histone Methyltransferases, Animals, Humans, Female, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5d3eda4de4b50cfeb57ca862d51eaeTest
https://pubmed.ncbi.nlm.nih.gov/35331928Test -
10Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
المؤلفون: Kun Xia, Jianjun Ou, Zhengmao Hu, Hui Guo, Jingping Zhao, Xiaoyan Ke, Lu Shen, Xiangbin Jia, Ying Li, Jieqiong Tan, Tengfei Zhu, Yanling Liu, Ting Bai, Honghui Li, Huidan Wu, Lin Han, Xiaobing Zou, Wenjing Zhao
المصدر: Journal of Genetics and Genomics. 46:247-257
مصطلحات موضوعية: Neurite, L1, Autism Spectrum Disorder, Dendritic Spines, Mutation, Missense, Down-Regulation, Transposases, Biology, 03 medical and health sciences, 0302 clinical medicine, Neurites, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Molecular Biology, Gene, Cellular localization, 030304 developmental biology, Neurons, 0303 health sciences, Gene knockdown, medicine.disease, Autism spectrum disorder, Autism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c10fb0a5897530e88e881c4ec46701Test
https://doi.org/10.1016/j.jgg.2019.04.002Test