共 50 条
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- [42] Cerebrospinal fluid investigations for neurometabolic disordersNEUROPEDIATRICS, 1998, 29 (02) : 59 - 71Hoffmann, GF论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Kinderklin, Abt Neuropadiat & Stoffwechselerkrankungen, D-35037 Marburg, GermanySurtees, RAH论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Kinderklin, Abt Neuropadiat & Stoffwechselerkrankungen, D-35037 Marburg, GermanyWevers, RA论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Kinderklin, Abt Neuropadiat & Stoffwechselerkrankungen, D-35037 Marburg, Germany
- [43] Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental DisordersJAMA NETWORK OPEN, 2025, 8 (03)Lan, Xiaoping论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaTang, Xiaojun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaWeng, Wenhao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaXu, Wuhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaSong, Xiaozhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaYang, Yongchen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaSun, Hong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Shanghai Engn Res Ctr Big Data Pediat Precis Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Ctr Biomed Informat, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaYe, Haiyun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Ophthalmol, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaZhang, Hong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaYu, Guangjun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R ChinaWu, Shengnan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Clin Lab, 24 Lane 1400, Beijing West Rd, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Inst Pediat Infect Immun & Crit Care Med, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Coll Hlth Sci & Technol, Sch Med, Shanghai, Peoples R China Southern Med Univ, Shenzhen Matern & Child Healthcare Hosp, 2004 Hongli Rd, Shenzhen 518028, Peoples R China
- [44] A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological DisordersNEUROLOGY, 2020, 94 (15)Ngo, Kathie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USARexach, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USALee, Hane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAPetty, Lauren论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Med Genet, Nashville, TN USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAPerlman, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAValera, Juliana论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USADeignan, Joshua论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAMao, Yuanming论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAAker, Mamdouh论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAPosey, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAJhangiani, Shalini论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USACoban-Akdemir, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USABoerwinkle, Eric论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAMuzny, Donna论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USANelson, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAHassin-Baer, Sharon论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv, Israel Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAPoke, Gemma论文数: 0 引用数: 0 h-index: 0机构: Wellington Hosp, Wellington, New Zealand Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USANeas, Katherine论文数: 0 引用数: 0 h-index: 0机构: Wellington Hosp, Wellington, New Zealand Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAGeschwind, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAGrody, Wayne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAGibbs, Richard论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAGeschwind, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USALupski, James论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA论文数: 引用数: h-index:机构:Nelson, Stanley论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USAFogel, Brent论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neurol, Los Angeles, CA 90024 USA
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- [48] A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disordersJournal of Human Genetics, 2013, 58 : 57 - 57Tadashi Kaname论文数: 0 引用数: 0 h-index: 0机构: University of the Ryukyus Graduate School of Medicine,Department of Medical GeneticsKumiko Yanagi论文数: 0 引用数: 0 h-index: 0机构: University of the Ryukyus Graduate School of Medicine,Department of Medical GeneticsKenji Naritomi论文数: 0 引用数: 0 h-index: 0机构: University of the Ryukyus Graduate School of Medicine,Department of Medical Genetics
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J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsErasmus, Corrie E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Pediat Neurol, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlandsvan Engelen, Baziel G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsBulk, Saskia论文数: 0 引用数: 0 h-index: 0机构: CHU Liege, Serv Genet Humaine, Liege, Belgium Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsVerschuuren-Bemelmans, Corien C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsGerkes, E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlandsde Geus, Christa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlandsvan Der Zwaag, P. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsChan, Sophelia论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Pediat & Adolescent Med, Hong Kong, Peoples R China Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsChung, Brian论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Pediat & Adolescent Med, Hong Kong, Peoples R China Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsBarge-Schaapveld, Daniela Q. C. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsKriek, Marjolein论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsSznajer, Yves论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsVan Spaendonck-Zwarts, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlandsvan Der Kooi, Anneke J.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Med Ctr, Neurosci Inst, Dept Neurol,Amsterdam UMC, Amsterdam, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsKrause, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ Witwatersrand, Fac Hlth Sci, Natl Hlth Lab Serv, Div Human Genet, Johannesburg, South Africa Univ Witwatersrand, Fac Hlth Sci, Sch Pathol, Johannesburg, South Africa Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsSchonewolf-Greulich, Bitten论文数: 0 引用数: 0 h-index: 0机构: Rigshosp Copenhagen, Dept Clin Genet, Copenhagen, Denmark Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsDe Die-Smulders, Christine论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsSallevelt, Suzanne C. E. H.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsKrapels, Ingrid P. C.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsRasmussen, Magnhild论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Child Neurol, Oslo, Norway Oslo Univ Hosp, Unit Congenital & Inherited Neuromuscular Disorde, Oslo, Norway Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsMaystadt, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsKievit, Anneke J. A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsWitting, Nanna论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Dept Neurol, Copenhagen, Denmark Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsPennings, Maartje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsMeijer, Rowdy论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsGillissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, NetherlandsVoermans, Nicol C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands