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- [21] A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disabilityNEUROGENETICS, 2023, 24 (04) : 251 - 262Li, Nana论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaKang, Hong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaZou, Yanna论文数: 0 引用数: 0 h-index: 0机构: Changyi Maternal & Child Care Hosp, Dept Gynaecol & Obstet, Weifang, Shandong, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaLiu, Zhen论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaDeng, Ying论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaWang, Meixian论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaLi, Lu论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaQin, Hong论文数: 0 引用数: 0 h-index: 0机构: Wuhou Dist Peoples Hosp, Dept Gynaecol & Obstet, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaQiu, Xiaoqiong论文数: 0 引用数: 0 h-index: 0机构: Pidu Dist Peoples Hosp, Dept Obstet & Gynecol, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaWang, Yanping论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaZhu, Jun论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaAgostino, Mark论文数: 0 引用数: 0 h-index: 0机构: Curtin Univ, Fac Hlth Sci, Bentley, Australia Curtin Univ, Curtin Inst Computat, Bentley, Australia Curtin Univ, Curtin Med Sch, Bentley, Australia Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaHeng, Julian I-T论文数: 0 引用数: 0 h-index: 0机构: Curtin Univ, Fac Hlth Sci, Bentley, Australia Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R ChinaYu, Ping论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Natl Ctr Birth Defect Monitoring, Chengdu, Sichuan, Peoples R China
- [22] De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disabilityEUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (12) : 686 - 688Almuqbil, Mohammed论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, CanadaHamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neurosci, Montreal, PQ H3C 3J7, Canada St Justine Hosp Res Ctr, Montreal, PQ, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, CanadaMathonnet, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ St Justine, Serv Genet, Montreal, PQ, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, CanadaRosenblatt, Bernard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada论文数: 引用数: h-index:机构:
- [23] A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disabilityneurogenetics, 2023, 24 : 251 - 262Nana Li论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringHong Kang论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringYanna Zou论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringZhen Liu论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringYing Deng论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringMeixian Wang论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringLu Li论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringHong Qin论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringXiaoqiong Qiu论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringYanping Wang论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringJun Zhu论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringMark Agostino论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringJulian I-T Heng论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect MonitoringPing Yu论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,National Center for Birth Defect Monitoring
- [24] Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)OPEN LIFE SCIENCES, 2017, 12 (01): : 167 - 177Saleha, Shamim论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat 26000, Khyber Pakhtunk, Pakistan Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat 26000, Khyber Pakhtunk, Pakistan论文数: 引用数: h-index:机构:Zafar, Shaista论文数: 0 引用数: 0 h-index: 0机构: Pakistan Inst Med Sci, Islamabad 44000, Pakistan Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat 26000, Khyber Pakhtunk, PakistanPervaiz, Neelam论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat 26000, Khyber Pakhtunk, Pakistan Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat 26000, Khyber Pakhtunk, Pakistan
- [25] YAF2: a novel candidate gene implicated in autosomal recessive non-syndromic intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1444 - 1444Zafar, Ghazala论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Biol & Biomed Sci, Karachi, Pakistan Aga Khan Univ, Biol & Biomed Sci, Karachi, PakistanKhalid, Lubaba Bintee论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Biol & Biomed Sci, Karachi, Pakistan Aga Khan Univ, Biol & Biomed Sci, Karachi, PakistanAli, Zafar论文数: 0 引用数: 0 h-index: 0机构: Univ Swat, Ctr Biotechnol & Microbiol, Swat, Pakistan Aga Khan Univ, Biol & Biomed Sci, Karachi, PakistanHashami, Sohana Nadeem论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Biol & Biomed Sci, Karachi, Pakistan Aga Khan Univ, Biol & Biomed Sci, Karachi, PakistanToft, Mathias论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Inst Clin Med, Oslo, Norway Oslo Univ Hosp, Dept Neurol, Oslo, Norway Aga Khan Univ, Biol & Biomed Sci, Karachi, PakistanIqbal, Zafar论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Neurol, Oslo, Norway Aga Khan Univ, Biol & Biomed Sci, Karachi, Pakistan论文数: 引用数: h-index:机构:
- [26] Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish familyBMC Medical Genomics, 12Eva Lindholm Carlström论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory UppsalaJonatan Halvardson论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory UppsalaMitra Etemadikhah论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory UppsalaLennart Wetterberg论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory UppsalaKarl-Henrik Gustavson论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory UppsalaLars Feuk论文数: 0 引用数: 0 h-index: 0机构: Uppsala University,Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala
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Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, SwitzerlandBeygo, Jasmin论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland论文数: 引用数: h-index:机构:Dufke, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandCremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandHorn, Denise论文数: 0 引用数: 0 h-index: 0机构: Univ Med Berlin, Charite, Inst Med Genet, Berlin, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandJoset, Pascal论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland Univ Zurich, Inst Med Genet, Zurich, SwitzerlandRopke, Albrecht论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Human Genet, D-4400 Munster, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandMoog, Ute论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandRiess, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandThiel, Christian T.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandTzschach, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandWiesener, Antje论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandWohlleber, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandEkici, Arif B.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandZink, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland论文数: 引用数: h-index:机构:Meisinger, Christa论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Epidemiol 2, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandGrallert, Harald论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandSticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandSchenck, Annette论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Donders Inst Brain Cogn, NL-6525 ED Nijmegen, Netherlands Univ Zurich, Inst Med Genet, Zurich, SwitzerlandEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandRappold, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandSchrock, Evelin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, D-01062 Dresden, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandWieacker, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Human Genet, D-4400 Munster, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, SwitzerlandStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland
- [28] Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disabilityCELL COMMUNICATION AND SIGNALING, 2013, 11Al-Tawashi, Azza论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Verna & Marrs McLean Dept Biochem & Mol Biol, Ctr Mol Discovery, Houston, TX 77030 USA King Abdullah Univ Sci & Technol, Div Chem & Life Sci & Engn, Thuwal 23955, Saudi Arabia Baylor Coll Med, Verna & Marrs McLean Dept Biochem & Mol Biol, Ctr Mol Discovery, Houston, TX 77030 USAGehring, Chris论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Univ Sci & Technol, Div Chem & Life Sci & Engn, Thuwal 23955, Saudi Arabia Baylor Coll Med, Verna & Marrs McLean Dept Biochem & Mol Biol, Ctr Mol Discovery, Houston, TX 77030 USA
- [29] Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disabilityCell Communication and Signaling, 11Azza Al-Tawashi论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Center for Molecular Discovery, Verna and Marrs McLean Department of Biochemistry and Molecular BiologyChris Gehring论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Center for Molecular Discovery, Verna and Marrs McLean Department of Biochemistry and Molecular Biology
- [30] Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish familyBMC MEDICAL GENOMICS, 2019, 12 (01)Carlstrom, Eva Lindholm论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, Sweden Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, SwedenHalvardson, Jonatan论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, Sweden Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, Sweden论文数: 引用数: h-index:机构:Wetterberg, Lennart论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Clin Neurosci CNS, K8, Stockholm, Sweden Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, SwedenGustavson, Karl-Henrik论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, Sweden Uppsala Univ, Sci Life Lab Uppsala, Dept Immunol Genet & Pathol, Box 815, SE-75108 Uppsala, Sweden论文数: 引用数: h-index:机构: