共 50 条
- [31] 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
- [32] 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
- [33] 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
- [34] Structural PPT1 variant implicated in non-syndromic retinal degeneration in dogsINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)Murgiano, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USABecker, Doreen论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USATorjman, Dina论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USANiggel, Jessica K.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USAJagannathan, Vidhya论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Genet, Bern, Switzerland Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USAPearce-Kelling, Sue论文数: 0 引用数: 0 h-index: 0机构: OptiGen, Cornell Technol Pk, Ithaca, NY USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USAKatz, Martin L.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Sch Med, Mason Eye Inst, Columbia, MO USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USAAguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA Univ Penn, Dept Clin Sci & Adv Med, Philadelphia, PA 19104 USA
- [35] 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
- [36] Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyLANCET, 2012, 380 (9854): : 1674 - 1682论文数: 引用数: h-index:机构:Wieczorek, Dagmar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, SwitzerlandGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandEndele, Sabine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, SwitzerlandSchwarzmayr, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, SwitzerlandAlbrecht, 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
- [37] 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:
- [38] Cc2d1a regulates intracellular trafficking and signaling in neuronsMOLECULAR BIOLOGY OF THE CELL, 2015, 26Oaks, A. W.论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USA George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USADi Costanzo, S.论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USA George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USAZamarbide, M.论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USA George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USAManzini, M. C.论文数: 0 引用数: 0 h-index: 0机构: George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USA George Washington Univ, Dept Pharmacol & Physiol, Washington, DC USA
- [39] Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1463 - 1463Khan, M. A.论文数: 0 引用数: 0 h-index: 0机构: Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, Pakistan Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanBlatterer, J.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Diagnost & Res Inst Human Genet, Graz, Austria Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanAli, M. Z.论文数: 0 引用数: 0 h-index: 0机构: Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, Pakistan Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanBaufeld, L.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Diagnost & Res Inst Human Genet, Graz, Austria Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanPetek, E.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Diagnost & Res Inst Human Genet, Graz, Austria Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanWagner, K.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Diagnost & Res Inst Human Genet, Graz, Austria Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, Pakistan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Muzammal, M.论文数: 0 引用数: 0 h-index: 0机构: Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, Pakistan Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, PakistanWindpassinger, C.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Diagnost & Res Inst Human Genet, Graz, Austria Gomal Univ, Gomal Ctr Biochem & Biotechnol, D I Khan, Pakistan
- [40] A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian familyEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (05)Binaafar, Sima论文数: 0 引用数: 0 h-index: 0机构: Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sahebjame, Hamidreza论文数: 0 引用数: 0 h-index: 0机构: Gonbad Kavous Univ, Fac Basic Sci, Dept Biol, Gonbad Kavous, Golestan, Iran Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, IranTavasoli, Ali Reza论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Myelin Disorders Clin,Pediat Neurol Div, Tehran, Iran Iran Univ Med Sci, Cardiogenet Res Ctr, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构: