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- [1] A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansHuman Genetics, 2021, 140 : 915 - 931Barbara Vona论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsNeda Mazaheri论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsSheng-Jia Lin论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsLucy A. Dunbar论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsReza Maroofian论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsHela Azaiez论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsKevin T. Booth论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsSandrine Vitry论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsAboulfazl Rad论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsFranz Rüschendorf论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsPratishtha Varshney论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsBen Fowler论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsChristian Beetz论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsKumar N. Alagramam论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsDavid Murphy论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsGholamreza Shariati论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsAlireza Sedaghat论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsHenry Houlden论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsCassidy Petree论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsShruthi VijayKumar论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsRichard J. H. Smith论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsThomas Haaf论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsAziz El-Amraoui论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsMichael R. Bowl论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsGaurav K. Varshney论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human GeneticsHamid Galehdari论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians University Würzburg,Institute of Human Genetics
- [2] A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansHUMAN GENETICS, 2021, 140 (06) : 915 - 931Vona, Barbara论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Eberhard Karls Univ Tubingen, Dept Otolaryngol Head & Neck Surg, Tubingen Hearing Res Ctr, Tubingen, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyMazaheri, Neda论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyLin, Sheng-Jia论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyDunbar, Lucy A.论文数: 0 引用数: 0 h-index: 0机构: MRC Harwell Inst, Mammalian Genet Unit, Harwell Campus, Didcot OX11 0RD, Oxon, England Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyAzaiez, Hela论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA USA Univ Iowa, Carver Coll Med, Interdisciplinary Grad Program Mol Med, Iowa City, IA USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyBooth, Kevin T.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA USA Univ Iowa, Carver Coll Med, Interdisciplinary Grad Program Mol Med, Iowa City, IA USA Harvard Med Sch, Dept Neurobiol, Boston, MA 02115 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyVitry, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Unit Progress Sensory Disorders Pathophysiol & Th, Inst Pasteur, Inst Audit,INSERM,UMRS1120, 63 Rue Charenton, F-75012 Paris, France Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyRad, Aboulfazl论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Dept Otolaryngol Head & Neck Surg, Tubingen Hearing Res Ctr, Tubingen, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyRueschendorf, Franz论文数: 0 引用数: 0 h-index: 0机构: Max Delbruck Ctr Mol Med Helmholtz Assoc, D-13125 Berlin, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyVarshney, Pratishtha论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyFowler, Ben论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Imaging & Histol Core, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyAlagramam, Kumar N.论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Univ Hosp Cleveland, Med Ctr, Dept Otolaryngol,Sch Med, 11100 Euclid Ave, Cleveland, OH 44106 USA Case Western Reserve Univ, Dept Neurosci, 11100 Euclid Ave, Cleveland, OH 44106 USA Case Western Reserve Univ, Dept Genet & Genom Sci, Cleveland, OH 44106 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyMurphy, David论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyShariati, Gholamreza论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Fac Med, Dept Med Genet, Ahvaz, Iran Narges Med Genet & Prenatal Diagnost Lab, East Mihan Ave, Ahvaz, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanySedaghat, Alireza论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Hlth Res Inst, Diabet Res Ctr, Ahvaz, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyPetree, Cassidy论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyVijayKumar, Shruthi论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanySmith, Richard J. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA USA Univ Iowa, Carver Coll Med, Interdisciplinary Grad Program Mol Med, Iowa City, IA USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyHaaf, Thomas论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyEl-Amraoui, Aziz论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Unit Progress Sensory Disorders Pathophysiol & Th, Inst Pasteur, Inst Audit,INSERM,UMRS1120, 63 Rue Charenton, F-75012 Paris, France Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyBowl, Michael R.论文数: 0 引用数: 0 h-index: 0机构: MRC Harwell Inst, Mammalian Genet Unit, Harwell Campus, Didcot OX11 0RD, Oxon, England UCL, UCL Ear Inst, 332 Grays Inn Rd, London WC1X 8EE, England Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyVarshney, Gaurav K.论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyGalehdari, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany
- [3] A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing LossBIOCHEMICAL GENETICS, 2025,Aslam, M. Muaaz论文数: 0 引用数: 0 h-index: 0机构: Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, Pakistan Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanAbbas, Safdar论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Coll, Dept Biol Sci, Hanover, NH 03755 USA Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanNawaz, Shoaib论文数: 0 引用数: 0 h-index: 0机构: Sidra Med, Dept Human Genet, Doha, Qatar Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, Pakistan论文数: 引用数: h-index:机构:Ahmed, Ishtiaq论文数: 0 引用数: 0 h-index: 0机构: Pir Mehr Ali Shah Arid Agr Univ, Inst Biochem & Biotechnol, Rawalpindi 46000, Pakistan NUST, Islamabad 44000, Pakistan Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanRafeeq, Misbahuddin论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Med, Dept Pharmacol, Rabighjeddah, Saudi Arabia Integral Univ, Integral Inst Med Sci & Res, Lucknow, India Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanSain, Ziaullah M.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Microbiol, Fac Med, Jeddah 21413, Saudi Arabia Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanHabib, Alaa Hamed论文数: 0 引用数: 0 h-index: 0机构: Abdulaziz Univ, Fac Med King, Dept Physiol, Jeddah, Saudi Arabia Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanUmair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Minist Natl Guard Hlth Affairs MNGH, Riyadh, Saudi Arabia Univ Management & Technol UMT, Sch Sci, Dept Life Sci, Lahore 14611, Pakistan Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, PakistanShah, Khadim论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Dermatol, New Haven, CT 06510 USA Lahore Univ Management Sci, Sch Sci & Engn, Dept Life Sci, Lahore, Pakistan
- [4] A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese familyINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2018, 104 : 108 - 112Liang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R China Dongguan Inst Pediat, Dept Med & Mol Genet, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaWang, Kangwei论文数: 0 引用数: 0 h-index: 0机构: Dongguan Inst Pediat, Dept Med & Mol Genet, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaPeng, Qi论文数: 0 引用数: 0 h-index: 0机构: Dongguan Inst Pediat, Dept Med & Mol Genet, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaZhu, Pengyuan论文数: 0 引用数: 0 h-index: 0机构: CapitalBio Genom Co Ltd, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaWu, Chunqiu论文数: 0 引用数: 0 h-index: 0机构: CapitalBio Genom Co Ltd, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaRao, Chunbao论文数: 0 引用数: 0 h-index: 0机构: Dongguan Inst Pediat, Dept Med & Mol Genet, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaChang, Jiang论文数: 0 引用数: 0 h-index: 0机构: Dongguan Childrens Hosp, Dept Otorhinolaryngol, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaLi, Siping论文数: 0 引用数: 0 h-index: 0机构: Dongguan Childrens Hosp, Med Lab, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R ChinaLu, Xiaomei论文数: 0 引用数: 0 h-index: 0机构: Dongguan Inst Pediat, Dept Med & Mol Genet, Dongguan, Guangdong, Peoples R China Dongguan Childrens Hosp, Dept Neurol, Dongguan, Guangdong, Peoples R China
- [5] Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing lossINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 79 (06) : 817 - 820Gu, Xiaodong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaSun, Shan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Res Ctr, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaGuo, Luo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Res Ctr, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaLu, Xiaoling论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaMei, Honglin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaLai, Chuijin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Res Ctr, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R ChinaLi, Huawei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R China Fudan Univ, Inst Biomed Sci, Inst Stem Cell & Regenerat Med, Shanghai 200032, Peoples R China Fudan Univ, State Key Lab Med Neurobiol, Shanghai 200032, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Key Lab Hearing Sci, Minist Hlth, Shanghai 200031, Peoples R China Fudan Univ, Affiliated Eye & ENT Hosp, Dept Otorhinolaryngol, Shanghai 200031, Peoples R China
- [6] Pathogenic variant frequencies in autosomal dominant non-syndromic hearing loss genesEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 113 - 113Fedorenko, Ivanna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Graz, Austria Med Univ Vienna, Div Cell & Dev Biol, Vienna, Austria Univ Sch Clin Genet, Salzburger Landeskliniken, Salzburg, Austria Paracelsus Med Univ, Salzburg, Austria Med Univ Graz, Graz, Austria论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Frei, Klemens论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Otorhinolaryngol Head & Neck Surg, Vienna, Austria Med Univ Graz, Graz, Austria论文数: 引用数: h-index:机构:
- [7] A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsyEPILEPSIA OPEN, 2019, 4 (03) : 464 - 475论文数: 引用数: h-index:机构:Moutton, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Dijon Univ Hosp, Reference Ctr Dev Anomalies, Dept Med Genet, Dijon, France Burgundy Univ, INSERM U1231, LNC UMR1231 GAD, Dijon, France Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, ItalyLongobardi, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, Italy Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, ItalyMau-Them, Frederic Tran论文数: 0 引用数: 0 h-index: 0机构: Burgundy Univ, INSERM U1231, LNC UMR1231 GAD, Dijon, France CHU Dijon, Plateau Tech Biol, Lab Genet, Innovat Diagnost Genom Malad Rares UF6254, Dijon, France Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, Italy论文数: 引用数: h-index:机构:Nappi, Piera论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, Italy Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, ItalySoldovieri, Maria Virginia论文数: 0 引用数: 0 h-index: 0机构: Univ Molise, Dept Med & Hlth Sci V Tiberio, Campobasso, Italy Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Jouan, Thibaud论文数: 0 引用数: 0 h-index: 0机构: Burgundy Univ, INSERM U1231, LNC UMR1231 GAD, Dijon, France CHU Dijon, Plateau Tech Biol, Lab Genet, Innovat Diagnost Genom Malad Rares UF6254, Dijon, France Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, ItalyLehalle, Daphne论文数: 0 引用数: 0 h-index: 0机构: Dijon Univ Hosp, Reference Ctr Dev Anomalies, Dept Med Genet, Dijon, France Burgundy Univ, INSERM U1231, LNC UMR1231 GAD, Dijon, France Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, ItalyMaurey, Helene论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Bicetre, AP HP, Serv Neurol Pediat, Le Kremlin Bicetre, France Univ Naples Federico II, Dept Neurosci, Div Pharmacol, Naples, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [8] BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosaJOURNAL OF MEDICAL GENETICS, 2022, 59 (05) : 438 - 444Fadaie, Zeinab论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands RadboudUMC, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsWhelan, Laura论文数: 0 引用数: 0 h-index: 0机构: Trinity Coll Dublin, Smurfit Inst Genet, Sch Genet & Microbiol, Dublin, Ireland Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsDockery, Adrian论文数: 0 引用数: 0 h-index: 0机构: Trinity Coll Dublin, Smurfit Inst Genet, Sch Genet & Microbiol, Dublin, Ireland Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsLi, Catherina H. Z.论文数: 0 引用数: 0 h-index: 0机构: RadboudUMC, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Ophthalmol, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlandsvan der Born, L. Ingeborgh论文数: 0 引用数: 0 h-index: 0机构: Eye Hosp Rotterdam, Rotterdam Ophthalm Inst, Rotterdam, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsHoyng, Carel B.论文数: 0 引用数: 0 h-index: 0机构: RadboudUMC, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Ophthalmol, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsCorominas, Jordi论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands RadboudUMC, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Lampe, Anne K.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Clin Genet Serv, Edinburgh, Midlothian, Scotland Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsCremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands RadboudUMC, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsFarrar, Gwyneth Jane论文数: 0 引用数: 0 h-index: 0机构: Trinity Coll Dublin, Smurfit Inst Genet, Sch Genet & Microbiol, Dublin, Ireland Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsEllingford, Jamie M.论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, North West Genom Lab Hub, Manchester, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Div Evolut & Genom Sci Neurosci & Mental Hlth Dom, Manchester, Lancs, England Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsKenna, Paul F.论文数: 0 引用数: 0 h-index: 0机构: Trinity Coll Dublin, Smurfit Inst Genet, Sch Genet & Microbiol, Dublin, Ireland Royal Victoria Eye & Ear Hosp, Res Fdn, Dublin, Ireland Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsRoosing, Susanne论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands RadboudUMC, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
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