共 50 条
- [41] Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficienciesJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (02) : 529 - +Nijman, Isaac J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan Montfrans, Joris M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pediat Immunol & Infect Dis, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsHoogstraat, Marlous论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Oncol, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsBoes, Marianne L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pediat Immunol & Infect Dis, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan de Corput, Lisette论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Immunol, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsRenner, Ellen D.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Univ Childrens Hosp, Dept Immunol, Munich, Germany Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan Zon, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan Lieshout, Stef论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsElferink, Martin G.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan der Burg, Mirjam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Immunol, Erasmus MC, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsVermont, Clementien L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Pediat Infect Dis Immunol & Stem Cell Transp, Med Ctr, NL-2300 RA Leiden, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan der Zwaag, Bert论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsJanson, Esther论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, NetherlandsCuppen, Edwin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan Amstel, Johannes K. Ploos论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlandsvan Gijn, Marielle E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands
- [42] Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathyMOLECULAR VISION, 2017, 23 : 605 - 613Huang, Xiao-Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, China Natl GeneBank Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaZhuang, Hong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaWu, Ji-Hong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaLi, Jian-Kang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, China Natl GeneBank Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaHu, Fang-Yuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaZheng, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, China Natl GeneBank Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaTellier, Laurent Christian Asker M.论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, China Natl GeneBank Shenzhen, Shenzhen, Peoples R China Univ Copenhagen, Dept Biol, Bioinformat, Copenhagen, Denmark Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaZhang, Sheng-Hai论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaGao, Feng-Juan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaZhang, Jian-Guo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, China Natl GeneBank Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R ChinaXu, Ge-Zhi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Shanghai 200032, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China
- [43] Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontiaPLOS ONE, 2018, 13 (09):Bonczek, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech Republic Acad Sci Czech Republ, Inst Anim Physiol & Genet, Lab Neurobiol & Pathol Physiol, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicBielik, Peter论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicKrejci, Premysl论文数: 0 引用数: 0 h-index: 0机构: Palacky Univ, Inst Dent & Oral Sci, Fac Med & Dent, Olomouc, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicZeman, Tomas论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicIzakovicova-Holla, Lydie论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Clin Stomatol, Brno, Czech Republic St Annes Univ Hosp, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicSoukalova, Jana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Clin Stomatol, Brno, Czech Republic St Annes Univ Hosp, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicVanek, Jiri论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Clin Stomatol, Brno, Czech Republic St Annes Univ Hosp, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicGerguri, Tereza论文数: 0 引用数: 0 h-index: 0机构: Francis Crick Inst, Biomol Modelling Lab, London, England Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicBalcar, Vladimir J.论文数: 0 引用数: 0 h-index: 0机构: Acad Sci Czech Republ, Inst Anim Physiol & Genet, Lab Neurobiol & Pathol Physiol, Brno, Czech Republic Univ Sydney, Sydney Med Sch, Sch Med Sci, Lab Neurochem,Bosch Inst, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sch Med Sci, Discipline Anat & Histol, Sydney, NSW, Australia Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech RepublicSery, Omar论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech Republic Acad Sci Czech Republ, Inst Anim Physiol & Genet, Lab Neurobiol & Pathol Physiol, Brno, Czech Republic Masaryk Univ, Dept Biochem, Lab Neurobiol & Mol Psychiat, Fac Sci, Brno, Czech Republic
- [44] Clinical application of targeted next-generation sequencing in severe pneumonia: a retrospective reviewCRITICAL CARE, 2024, 28 (01)Zhang, Peng论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaLiu, Baoyi论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZhang, Shuang论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaChang, Xuefei论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Resp & Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZhang, Lihe论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Resp & Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaGu, Dejian论文数: 0 引用数: 0 h-index: 0机构: Geneplus Beijing Inst, Beijing 102206, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZheng, Xin论文数: 0 引用数: 0 h-index: 0机构: Geneplus Beijing Inst, Beijing 102206, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaChen, Jiaqing论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaXiao, Saiyin论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaWu, Zhentao论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaCai, Xuemin论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaLong, Mingfa论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaLu, Wenjie论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZheng, Mingzhu论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaChen, Rongrong论文数: 0 引用数: 0 h-index: 0机构: Geneplus Beijing Inst, Beijing 102206, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaGao, Rui论文数: 0 引用数: 0 h-index: 0机构: Geneplus Beijing Inst, Beijing 102206, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZheng, Yan论文数: 0 引用数: 0 h-index: 0机构: Hybribio Ltd, Guangdong Res Inst Genet Diagnost & Engn Technol T, Dept Res & Dev, Guangzhou 510000, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaWu, Jinhua论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Clin Lab, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaFeng, Qiujuan论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Clin Lab, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaHe, Gang论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Infect Dis, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaChen, Yantang论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZheng, Weihao论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZuo, Wanli论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Resp & Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaHuang, Yanming论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Resp & Crit Care Med, Jiangmen 529030, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R ChinaZhang, Xin论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Cent Hosp, Clin Expt Ctr, Jiangmen Engn Technol Res Ctr Clin Biobank & Trans, Jiangmen 529030, Peoples R China Guangdong Med Univ, Dongguan Key Lab Med Bioact Mol Dev & Translat Res, Guangdong Prov Key Lab Med Mol Diagnost, Dongguan 523808, Peoples R China Jiangmen Cent Hosp, Dept Crit Care Med, Jiangmen 529030, Peoples R China
- [45] Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesHUMAN MUTATION, 2022, 43 (03) : 347 - 361Jordan, Penelope论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceDorval, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France Univ Paris, Lab Malad, Renales Hereditaires Inst Imagine, Inserm U1163, Paris, France Hop Univ Necker Enfants Malades, AP HP, Ctr Reference Malad Renales Hereditaires Enfant &, Serv Nephrol Pediat, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Moriniere, Vincent论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceTournant, Carole论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceAudrezet, Marie-Pierre论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Brest, Serv Genet Mol Genet Genom & Biotechnol, UMR 1078, Brest, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceMichel-Calemard, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Groupement Hosp Est, CBPE, Serv Biochim Biol Mol Grand Est, Bron, France Hop Univ Necker Enfants Malades, AP HP, Serv Embryofoetopathol, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FrancePutoux, Audrey论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Groupement Hosp Est, Serv Genet, Bron, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceLesca, Gaethan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Groupement Hosp Est, Serv Genet, Bron, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceLabalme, Audrey论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Groupement Hosp Est, Serv Genet, Bron, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Loeuillet, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceMartinovic, Jelena论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Antoine Beclere, AP HP, Serv Foetopathol, Clamart, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceAttie-Bitach, Tania论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Imagine, Inserm U 1163, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceBessieres, Bettina论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Imagine, Inserm U 1163, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceSchaefer, Elise论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Lambert, Laetitia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg Univ Nancy, Serv Genet Med, Nancy, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceBeneteau, Claire论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nancy, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FrancePatat, Olivier论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Toulouse, Serv Genet Med, Toulouse, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceBoute-Benejean, Odile论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Hop Jeanne Flandre, Serv Genet Med, Lille, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceMolin, Arnaud论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Med, Caen, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceGuimiot, Fabien论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, AP HP, Serv Embryofoetopathol, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceFontanarosa, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Grasse, Serv Gynecol, Grasse, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Lefebvre, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Armand Trousseau, AP HP, Serv Pathol Foetale, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, FranceJeanpierre, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Lab Malad, Renales Hereditaires Inst Imagine, Inserm U1163, Paris, France Hop Univ Necker Enfants Malades, AP HP, Serv Genet, Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [46] Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case reportHUMAN PATHOLOGY, 2016, 47 (01) : 144 - 149论文数: 引用数: h-index:机构:Simeonov, Emil论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Pediat Clin, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, Bulgaria论文数: 引用数: h-index:机构:Dacheva, Daniela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Sofia 1431, Bulgaria Med Univ Sofia, Fac Med, Dept Med Chem & Biochem, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, BulgariaPenkov, Mann论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp St Ivan Rilski, Imaging Dept, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, BulgariaKremensky, Ivo论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Obstet & Gynecol, Natl Genet Lab, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, BulgariaPerenovska, Penka论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Pediat Clin, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, BulgariaMitev, Vanio论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Sofia 1431, Bulgaria Med Univ Sofia, Fac Med, Dept Med Chem & Biochem, Sofia 1431, Bulgaria Med Univ Sofia, Mol Med Ctr, Sofia 1431, Bulgaria论文数: 引用数: h-index:机构:
- [47] Identification of a Novel Methyl-CpG Binding Protein 2 Mutation in a Rare Case Using Targeted Next-Generation Sequencing TechnologyANNALS OF NEUROLOGY, 2014, 76 : S53 - S53Zhou, Xiao论文数: 0 引用数: 0 h-index: 0Zhou, Liang论文数: 0 引用数: 0 h-index: 0Ji, Zhong论文数: 0 引用数: 0 h-index: 0Wei, Xiaoming论文数: 0 引用数: 0 h-index: 0Hu, Yafang论文数: 0 引用数: 0 h-index: 0
- [48] Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH SyndromeAMERICAN JOURNAL OF GASTROENTEROLOGY, 2017, 112 (02): : 396 - 398论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Saeidian, Amir Hossein论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USASotoudeh, Soheila论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Dept Dermatol, Ctr Excellence, Childrens Med Ctr, Tehran, Iran Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USAZeinali, Sirous论文数: 0 引用数: 0 h-index: 0机构: Pasteur Inst Iran, Dept Mol Med, Biotechnol Res Ctr, Tehran, Iran Kawsar Human Genet Res Ctr, Tehran, Iran Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USAUitto, Jouni论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, 233 S 10th St,Suite 450 BLSB, Philadelphia, PA 19107 USA
- [49] Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencingCLINICA CHIMICA ACTA, 2022, 524 : 194 - 200Fang, Xiaohua论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaZhu, Chaofeng论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaZhu, Xiaofan论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaFeng, Yin论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaJiao, Zhihui论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaDuan, Huikun论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaKong, Xiangdong论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R ChinaLiu, Ning论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Obstet & Gynecol Dept, Zhengzhou 450052, Peoples R China
- [50] Identification and characterization of novel fusion genes in prostate cancer by targeted RNA capture and next-generation sequencingACTA BIOCHIMICA ET BIOPHYSICA SINICA, 2018, 50 (11) : 1166 - 1172Yang, Jie论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaChen, Yun论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaLu, Jingxiao论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Univ, Affiliated Hosp 1, Biobank, Peoples Hosp 2, Shenzhen 100730, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaWang, Xingxing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaWang, Lu论文数: 0 引用数: 0 h-index: 0机构: Southeast Univ, Inst Life Sci, Key Lab Dev Genes & Human Dis, Nanjing 210096, Jiangsu, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaLiang, Jialong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Beijing Inst Life Sci, Beijing 100000, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R ChinaSun, Zhong Sheng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China