共 50 条
- [31] Novel mutations identified by whole-exome sequencing in acral melanomaJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2020, 83 (06) : 1792 - 1794Lim, Youngkyoung论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South KoreaYoon, Dokyoung论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South KoreaLee, Dong-Youn论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Dermatol, 81 Irwon Ro, Seoul 06351, South Korea
- [32] Whole exome sequencing identified six novel genes for depressive symptomsMOLECULAR PSYCHIATRY, 2024,Li, Ze-Yu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaFei, Chen-Jie论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaYin, Rui-Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaKang, Ju-Jiao论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaMa, Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaHe, Xiao-Yu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaWu, Xin-Rui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaZhao, Yu-Jie论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaZhang, Wei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaLiu, Wei-Shi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaWu, Bang-Sheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China论文数: 引用数: h-index:机构:Zhu, Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaFeng, Jian-Feng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Univ Warwick, Dept Comp Sci, Coventry CV4 7AL, England Zhejiang Normal Univ, Fudan ISTBI ZJNU Algorithm Ctr Brain inspired Inte, Jinhua, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaYu, Jin-Tai论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R ChinaCheng, Wei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Natl Ctr Neurol Disorders, State Key Lab Med Neurobiol, Shanghai, Peoples R China Fudan Univ, MOE Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Minist Educ, Key Lab Computat Neurosci & Brain Inspired Intelli, Shanghai, Peoples R China Zhejiang Normal Univ, Fudan ISTBI ZJNU Algorithm Ctr Brain inspired Inte, Jinhua, Peoples R China Fudan Univ, Inst Sci & Technol Brain Inspired Intelligence, Dept Neurol, Shanghai, Peoples R China
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- [34] WHOLE EXOME SEQUENCING IDENTIFIED CANDIDATE GENE MUTATIONS IN A PEDIGREE OF FAMILIAL MYELOPROLIFERATIVE NEOPLASMEXPERIMENTAL HEMATOLOGY, 2017, 53 : S116 - S116Cher, Chae Yin论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaLam, Nelson Ka论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaLam, Stephen Sze Yuen论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaHe, Bai-Liang论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaYing, Dingge论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaChung, Brian Hon-Yin论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaAu, Chun Hung论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Sanat Hosp, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaChan, Tsun Leung论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Sanat Hosp, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaMa, Edmond Shiu Kwan论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Sanat Hosp, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaLiang, Raymond Hin Suen论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Sanat Hosp, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaKwong, Yok Lam论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R ChinaLeung, Anskar Yu Hung论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China Univ Hong Kong, Hong Kong, Peoples R China
- [35] Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencingMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (03):Ren, Ming-Bao论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R ChinaChai, Xiao-Rui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Clin Lab, Med Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R ChinaLi, Lin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R ChinaWang, Xin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R ChinaYin, Chenghong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing, Peoples R China
- [36] Genetic variants in familial abdominal aortic aneurysms identified by Whole Genome and Exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 257 - 258IJpma, A.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Bioinformat, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsHeijsman, D.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsBruggenwirth, H.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, Netherlandsvan den Boogert, I.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsMajoor-Krakauer, D.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, Netherlands
- [37] Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial AneurysmKOREAN JOURNAL OF RADIOLOGY, 2022, 23 (01) : 101 - 111Song, Yunsun论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South Korea Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South KoreaLee, Jong-Keuk论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan Coll Med, Asan Med Ctr, Asan Inst Life Sci, Seoul, South Korea Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South KoreaLee, Jin-Ok论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan Coll Med, Med Genet Ctr, Asan Med Ctr, Dept Lab Med, 88 Olympic Ro,43 Gil, Seoul 05505, South Korea Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South Korea论文数: 引用数: h-index:机构:Seo, Eul-Ju论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan Coll Med, Med Genet Ctr, Asan Med Ctr, Dept Lab Med, 88 Olympic Ro,43 Gil, Seoul 05505, South Korea Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South KoreaSuh, Dae Chul论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South Korea Univ Ulsan Coll Med, Asan Med Ctr, Dept Radiol, Neurointervent Clin,Div Neurointervent Clin, Seoul, South Korea
- [38] A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case reportJOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2024, 52 (11)Li, Xueyi论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R China Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R ChinaKuang, Xiaoni论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R China Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R ChinaHuang, Guangwen论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Changsha, Peoples R China Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R ChinaLiu, Zhenyu论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Hunan Prov Peoples Hosp, Affiliated Hosp 1, Changsha, Peoples R China Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R ChinaYan, Shuyuan论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R China Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Changsha, Peoples R China
- [39] Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndromeGENES & DISEASES, 2020, 7 (04) : 614 - 619Ghaedi, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, IranRamsheh, Samira Molaei论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, IranOmidvar, Maryam Erfanian论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Sch Allied Med Sci, Dept Med Lab Technol, Tehran, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, IranLabbaf, Afsaneh论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Sch Allied Med Sci, Dept Med Lab Technol, Tehran, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, Iran论文数: 引用数: h-index:机构:Akbari, Sanaz论文数: 0 引用数: 0 h-index: 0机构: Nourdanesh Inst, Esfahan, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, IranPourfatemi, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Deputy Prevent Affairs State Welf Org Mazandaran, Sari, Iran Shahid Beheshti Univ Med Sci, Sch Med, Dept Med Genet, Tehran, Iran论文数: 引用数: h-index:机构:
- [40] Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes SyndromeJournal of Molecular Neuroscience, 2022, 72 : 691 - 694Ke-Liang Chen论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyHe Wang论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyGui-Xian Zhao论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyLei Wei论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyYu-Yuan Huang论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyShi-Dong Chen论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyJian Sun论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyQiang Dong论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyMei Cui论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyJin-Tai Yu论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of Neurology