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- [1] Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossGENES, 2021, 12 (08)Van Heurck, Roxane
Van Heurck, Roxane论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandCarminho-Rodrigues, Maria Teresa论文数: 引用数: h-index:机构:Ranza, EmmanuelleRanza, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandStafuzza, CaterinaStafuzza, Caterina论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Ear Nose Throat Head & Neck Surg Div, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandQuteineh, LinaQuteineh, Lina论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandGehrig, CorinneGehrig, Corinne论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandHammar, EvaHammar, Eva论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandGuipponi, MichelGuipponi, Michel论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandAbramowicz, MarcAbramowicz, Marc论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandSenn, Pascal论文数: 引用数: h-index:机构:Guinand, Nils论文数: 引用数: h-index:机构:Cao-Van, HeleneCao-Van, Helene论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Ear Nose Throat Head & Neck Surg Div, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, SwitzerlandPaoloni-Giacobino, ArianePaoloni-Giacobino, Ariane论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Div Genet Med, CH-1205 Geneva, Switzerland - [2] Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing lossPLOS ONE, 2018, 13 (01):Likar, TinaLikar, Tina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaHasanhodzic, MensudaHasanhodzic, Mensuda论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Ctr Tuzla, Dept Paediat, Policlin Med Genet Genet Counseling Out Patient Ca, Tuzla, Bosnia & Herceg Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaTeran, NatasaTeran, Natasa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaMaver, AlesMaver, Ales论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaPeterlin, BorutPeterlin, Borut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaWritzl, KarinWritzl, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia
- [3] Whole Exome Sequencing of Non-Syndromic Hearing Loss PatientsIRANIAN JOURNAL OF PUBLIC HEALTH, 2024, 53 (02) : 453 - 461Naddafnia, HosseinNaddafnia, Hossein论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranNoormohammadi, ZahraNoormohammadi, Zahra论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranIrani, ShivaIrani, Shiva论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranSalahshoorifar, ImanSalahshoorifar, Iman论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran
- [4] Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity searchHUMAN GENETICS, 2025, 144 (01) : 93 - 112Mutai, HidekiMutai, Hideki论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanMiya, FuyukiMiya, Fuyuki论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanNara, KiyomitsuNara, Kiyomitsu论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanYamamoto, NobukoYamamoto, Nobuko论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanInoue, SatomiInoue, Satomi论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Med Genet Ctr, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanMurakami, HarukaMurakami, Haruka论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Med Genet Ctr, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanNamba, KazunoriNamba, Kazunori论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanShitara, HiroshiShitara, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci, Ctr Basic Technol Res, Lab Transgen Technol, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanMinami, ShujiroMinami, Shujiro论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Dept Otolaryngol, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanNakano, AtsukoNakano, Atsuko论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Otolaryngol, Chiba, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanArimoto, YukikoArimoto, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Otolaryngol, Chiba, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanMorimoto, NorikoMorimoto, Noriko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Otorhinolaryngol, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanKawasaki, TaijiKawasaki, Taiji论文数: 0 引用数: 0 h-index: 0机构: Japanese Red Cross Shizuoka Hosp, Dept Otolaryngol Head & Neck Surg, Shizuoka, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanWasano, KoichiroWasano, Koichiro论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Dept Otolaryngol, Tokyo, Japan Japanese Red Cross Shizuoka Hosp, Dept Otolaryngol Head & Neck Surg, Shizuoka, Japan Tokai Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, Hiratsuka, Kanagawa, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanFujioka, Masato论文数: 引用数: h-index:机构:Uchida, YasueUchida, Yasue论文数: 0 引用数: 0 h-index: 0机构: Aichi Med Univ Hosp, Dept Otorhinolaryngol, Aichi, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanKaga, KimitakaKaga, Kimitaka论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Dept Otolaryngol, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanYamazawa, KazukiYamazawa, Kazuki论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Med Genet Ctr, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanKikkawa, YoshiakiKikkawa, Yoshiaki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Inst Med Sci, Dept Basic Med Sci, Deafness Project, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanKosaki, KenjiroKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanTsunoda, TatsuhikoTsunoda, Tatsuhiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Sch Sci, Dept Biol Sci, Lab Med Sci Math, Tokyo, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Lab Med Sci Math, Tokyo, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, JapanMatsunaga, TatsuoMatsunaga, Tatsuo论文数: 0 引用数: 0 h-index: 0机构: NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan NHO Tokyo Med Ctr, Med Genet Ctr, Tokyo, Japan NHO Tokyo Med Ctr, Dept Otolaryngol, Tokyo, Japan NHO Tokyo Med Ctr, Natl Inst Sensory Organs, Div Hearing & Balance Res, 2-5-1 Higashigaoka,Meguro Ku, Tokyo 1528902, Japan
- [5] Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing lossINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021, 148Liang, PengfeiLiang, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaChen, FengpingChen, Fengping论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaWang, ShujuanWang, Shujuan论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaLi, QiongLi, Qiong论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaLi, WeiLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaWang, JianWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaChen, JunChen, Jun论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaZha, DingjunZha, Dingjun论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Xijing Hosp, Dept Otolaryngol Head & Neck Surg, 127 Changle West Rd, Xian 710032, Shaanxi, Peoples R China
- [6] Exome sequencing reveals genetic architecture in patients with isolated or syndromic short statureJournal of Genetics and Genomics, 2021, 48 (05) : 396 - 402Xin FanXin Fan论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesSen ZhaoSen Zhao论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Baylor Genetics Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesChenxi YuChenxi Yu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Baylor Genetics Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDi WuDi Wu论文数: 0 引用数: 0 h-index: 0机构: Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesZihui YanZihui Yan论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Baylor Genetics Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesLijun FanLijun Fan论文数: 0 引用数: 0 h-index: 0机构: Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesYanning SongYanning Song论文数: 0 引用数: 0 h-index: 0机构: Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesYi WangYi Wang论文数: 0 引用数: 0 h-index: 0机构: Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesChuan LiChuan Li论文数: 0 引用数: 0 h-index: 0机构: Department of Molecular and Human Genetics, Baylor College of Medicine 15. Departments of Pediatrics, Baylor College of Medicine 16. Texas Chi Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University 2. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesYue MingYue Ming论文数: 0 引用数: 0 h-index: 0机构: Beijing Key Laboratory for Genetic Research of Skeletal Deformity Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesBaoheng GuiBaoheng Gui论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesYuchen NiuYuchen Niu论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesXiaoxin LiXiaoxin Li论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesXinzhuang YangXinzhuang Yang论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesShiyu LuoShiyu Luo论文数: 0 引用数: 0 h-index: 0机构: Baylor Genetics Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesQiang ZhangQiang Zhang论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University 2. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesXiuli ZhaoXiuli Zhao论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesHui PanHui Pan论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesMei LiMei Li论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesWeibo XiaWeibo Xia论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesGuixing QiuGuixing Qiu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Baylor Genetics PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 8. Medical Research Center, Peking Union Medical College Hospital, Peking U Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesPengfei LiuPengfei Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesShuyang ZhangShuyang Zhang论文数: 0 引用数: 0 h-index: 0机构: Baylor Genetics Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesJianguo ZhangJianguo Zhang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 8. Medical Research Center, Peking Union Medical College Hospital, Peking U Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesZhihong WuZhihong Wu论文数: 0 引用数: 0 h-index: 0机构: Baylor Genetics Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 8. Medical Research Center, Peking Union Medical College Hospital, Peking U Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesJames R. LupskiJames R. Lupski论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesJennifer E. PoseyJennifer E. Posey论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesShaoke ChenShaoke Chen论文数: 0 引用数: 0 h-index: 0机构: Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesChunxiu GongChunxiu Gong论文数: 0 引用数: 0 h-index: 0机构: Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesNan WuNan Wu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences Baylor Genetics PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 8. Medical Research Center, Peking Union Medical College Hospital, Peking U Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences
- [7] Exome sequencing reveals genetic architecture in patients with isolated or syndromic short statureJOURNAL OF GENETICS AND GENOMICS, 2021, 48 (05) : 396 - 402Fan, XinFan, Xin论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaZhao, SenZhao, Sen论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaYu, ChenxiYu, Chenxi论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaWu, DiWu, Di论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Endocrinol Genet & Metab, Beijing 100045, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaYan, ZihuiYan, Zihui论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaFan, LijunFan, Lijun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Endocrinol Genet & Metab, Beijing 100045, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaSong, YanningSong, Yanning论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Endocrinol Genet & Metab, Beijing 100045, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaWang, YiWang, Yi论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Endocrinol Genet & Metab, Beijing 100045, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLi, ChuanLi, Chuan论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi, Dept Pediat Endocrine & Metab, Nanning 530003, Guangxi, Peoples R China Maternal & Child Hlth Hosp Guangxi, Lab Genet & Metab, Nanning 530003, Guangxi, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaMing, YueMing, Yue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Canc Ctr, PET CT Ctr, Canc Hosp, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaGui, BaohengGui, Baoheng论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaNiu, YuchenNiu, Yuchen论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Med Res Ctr, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLi, XiaoxinLi, Xiaoxin论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Med Res Ctr, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaYang, XinzhuangYang, Xinzhuang论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Med Res Ctr, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLuo, ShiyuLuo, Shiyu论文数: 0 引用数: 0 h-index: 0机构: Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaZhang, QiangZhang, Qiang论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi, Lab Genet & Metab, Nanning 530003, Guangxi, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaZhao, XiuliZhao, Xiuli论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Sch Basic Med, Peking Union Med Coll, Inst Basic Med Sci, Dept Med Genet, Beijing 100005, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaPan, HuiPan, Hui论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrine & Metab, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLi, MeiLi, Mei论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrine & Metab, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaXia, WeiboXia, Weibo论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrine & Metab, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaQiu, GuixingQiu, Guixing论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Chinese Acad Med Sci, Key Lab Big Data Spinal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLiu, PengfeiLiu, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Baylor Genet, Houston, TX 77021 USA Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaZhang, ShuyangZhang, Shuyang论文数: 0 引用数: 0 h-index: 0机构: Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Cardiol, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaZhang, JianguoZhang, Jianguo论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Chinese Acad Med Sci, Key Lab Big Data Spinal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaWu, ZhihongWu, Zhihong论文数: 0 引用数: 0 h-index: 0机构: Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, Med Res Ctr, Beijing 100730, Peoples R China Chinese Acad Med Sci, Key Lab Big Data Spinal Deform, Beijing 100730, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaLupski, James R.Lupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaPosey, Jennifer E.Posey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaChen, ShaokeChen, Shaoke论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaGong, ChunxiuGong, Chunxiu论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Endocrinol Genet & Metab, Beijing 100045, Peoples R China Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R ChinaWu, NanWu, Nan论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll & Chinese Acad Med Sci, Peking Union Med Coll Hosp, State Key Laboratoty Complex Severe & Rare Dis, Dept Orthoped Surg, Beijing 100730, Peoples R China Beijing Key Lab Genet Res Skeletal Deform, Beijing 100730, Peoples R China Chinese Acad Med Sci, Key Lab Big Data Spinal Deform, Beijing 100730, Peoples R China Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Guangxi Med Univ, Dept Pediat, Affiliated Hosp 2, Nanning 530003, Guangxi, Peoples R China
- [8] Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness AnalysisLARYNGOSCOPE, 2021, 131 (07): : E2371 - E2377Downie, Lilian论文数: 引用数: h-index:机构:Amor, David J.论文数: 引用数: h-index:机构:Halliday, JaneHalliday, Jane论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaLewis, SharonLewis, Sharon论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaMartyn, Melissa论文数: 引用数: h-index:机构:Goranitis, Ilias论文数: 引用数: h-index:机构:
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- [10] Next generation sequencing study in a cohort of Italian patients with syndromic hearing lossHEARING RESEARCH, 2019, 381Lenarduzzi, StefaniaLenarduzzi, Stefania论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyMorgan, Anna论文数: 引用数: h-index:机构:Faletra, FlavioFaletra, Flavio论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyCappellani, StefaniaCappellani, Stefania论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyMorgutti, MarcelloMorgutti, Marcello论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyMezzavilla, MassimoMezzavilla, Massimo论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyPeruzzi, AdelaidePeruzzi, Adelaide论文数: 0 引用数: 0 h-index: 0机构: Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyGhiselli, SaraGhiselli, Sara论文数: 0 引用数: 0 h-index: 0机构: Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyAmbrosetti, Umberto论文数: 引用数: h-index:机构:Graziano, ClaudioGraziano, Claudio论文数: 0 引用数: 0 h-index: 0机构: St Orsola Marcello Malpighi Hosp, Unit Med Genet, Bologna, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalySeri, MarcoSeri, Marco论文数: 0 引用数: 0 h-index: 0机构: St Orsola Marcello Malpighi Hosp, Unit Med Genet, Bologna, Italy Inst Maternal & Child Hlth IRCCS Burlo Garofalo, Via Istria 65-1, Trieste, ItalyGasparini, Paolo论文数: 引用数: h-index:机构:Girotto, Giorgia论文数: 引用数: h-index:机构: