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- [1] Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)HUMAN MUTATION, 2024, 2024Susgun, Seda论文数: 0 引用数: 0 h-index: 0机构: Chungnam Natl Univ, Dept Biol, Daejeon 34134, South Korea Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkiye Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaBen-Mahmoud, Afif论文数: 0 引用数: 0 h-index: 0机构: Hamad Bin Khalifa Univ, Qatar Biomed Res Inst, Neurol Disorders Res Ctr, Doha, Qatar Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaRueschendorf, Franz论文数: 0 引用数: 0 h-index: 0机构: Max Delbruck Ctr Mol Med, Helmholtz Assoc, Berlin, Germany Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaKu, Bonsu论文数: 0 引用数: 0 h-index: 0机构: KRIBB, Dis Target Struct Res Ctr, Daejeon 34141, South Korea Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaHussain, Syeda Iqra论文数: 0 引用数: 0 h-index: 0机构: KUST, Dept Biotechnol & Genet Engn, Kohat, Khyber Pakhtunk, Pakistan Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaSchulz, Solveig论文数: 0 引用数: 0 h-index: 0机构: Zent Humangenet Tubingen, Tubingen, Germany Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaPuk, Oliver论文数: 0 引用数: 0 h-index: 0机构: Zent Humangenet Tubingen, Tubingen, Germany Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: Zent Humangenet Tubingen, Tubingen, Germany Ctr Genom & Transcript CeGaT, Tubingen, Germany Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaLabonne, Jonathan D. J.论文数: 0 引用数: 0 h-index: 0机构: SalioGen Therapeut, Lexington, MA USA Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaDon, Dilan Wellalage论文数: 0 引用数: 0 h-index: 0机构: Chungnam Natl Univ, Dept Biol, Daejeon 34134, South Korea Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaGupta, Vijay论文数: 0 引用数: 0 h-index: 0机构: Hamad Bin Khalifa Univ, Qatar Biomed Res Inst, Neurol Disorders Res Ctr, Doha, Qatar Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaChoi, Tae-Ik论文数: 0 引用数: 0 h-index: 0机构: Chungnam Natl Univ, Dept Biol, Daejeon 34134, South Korea Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaKhan, Saadullah论文数: 0 引用数: 0 h-index: 0机构: KUST, Dept Biotechnol & Genet Engn, Kohat, Khyber Pakhtunk, Pakistan Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaWasif, Naveed论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, Ulm, Germany Univ Hosp Schleswig Holstein, Inst Human Genet, Campus Kiel, Kiel, Germany Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaLacassie, Yves论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA USA Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaLayman, Lawrence C.论文数: 0 引用数: 0 h-index: 0机构: Augusta Univ, Dept Obstet & Gynecol, Sect Reprod Endocrinol Infertil & Genet, Augusta, GA USA Augusta Univ, Dept Neurosci & Regenerat Med, Augusta, GA USA Chungnam Natl Univ, Dept Biol, Daejeon 34134, South KoreaIseri, Sibel Aylin Ugur论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkiye Chungnam Natl Univ, Dept Biol, Daejeon 34134, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [2] PGAP2 -Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic PerspectivesNEUROPEDIATRICS, 2024, 55 (03) : 166 - 170Saracino, Annalisa论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyTotaro, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPolitano, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyGiorgis, Valentina D. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyGana, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPapalia, Grazia论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPichiecchio, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPlumari, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyRognone, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Orcesi, Simona论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
- [3] VHL syndrome without clear family history: A rare case report and literature review of Chinese patientsFRONTIERS IN NEUROLOGY, 2022, 13Li, Yaheng论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R China Shanxi Prov Key Lab Kidney Dis, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaXin, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Shanxi Univ, Core Lab, Shanxi Prov Peoples Hosp, Fifth Hosp, Taiyuan, Peoples R China Shanxi Med Univ, Acad Microbial Ecol, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaSong, Wenzhu论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Sch Publ Hlth, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaZhang, Xuan论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Shanxi Prov Peoples Hosp, Dept Neurosurg, Fifth Hosp, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaChen, Shengli论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Shanxi Prov Peoples Hosp, Dept Neurosurg, Fifth Hosp, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaWang, Qian论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R China Shanxi Prov Key Lab Kidney Dis, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaLi, Aizhong论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R China Shanxi Prov Key Lab Kidney Dis, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R ChinaLi, Yafeng论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R China Shanxi Prov Key Lab Kidney Dis, Taiyuan, Peoples R China Shanxi Univ, Core Lab, Shanxi Prov Peoples Hosp, Fifth Hosp, Taiyuan, Peoples R China Shanxi Med Univ, Acad Microbial Ecol, Taiyuan, Peoples R China Shanxi Med Univ, Dept Nephrol, Fifth Hosp, Shanxi Prov Peoples Hosp, Taiyuan, Peoples R China
- [4] SHORT syndrome in two Chinese girls: A case report and review of the literatureMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):Zhang, Yanhong论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R ChinaJi, Baolan论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R ChinaLi, Jinsheng论文数: 0 引用数: 0 h-index: 0机构: Henan Hongli Hosp, Dept Endocrinol, Changyuan City, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R ChinaLi, Yanying论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R ChinaZhang, Mei论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R ChinaBan, Bo论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol, 89 Guhuai Rd, Jining 272029, Peoples R China
- [5] Complex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature reviewMOLECULAR VISION, 2024, 31 : 476 - 486Jiang, Zhen论文数: 0 引用数: 0 h-index: 0机构: Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R China Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R ChinaZhang, Ya论文数: 0 引用数: 0 h-index: 0机构: Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R China Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R ChinaWang, Liqin论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Daping Hosp, Army Med Ctr, Dept Ophthalmol, Chongqing, Peoples R China Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R ChinaYang, Hong论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Daping Hosp, Army Med Ctr, Dept Ophthalmol, Chongqing, Peoples R China Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R ChinaYu, Ling论文数: 0 引用数: 0 h-index: 0机构: Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R China Army Med Univ, Daping Hosp, Army Med Ctr, Dept Ophthalmol, Chongqing, Peoples R China Southwest Med Univ, Affiliated Hosp, Dept Ophthalmol, Luzhou 646000, Sichuan, Peoples R China
- [6] LARS2-Perrault syndrome: a new case report and literature reviewBMC MEDICAL GENETICS, 2020, 21 (01)Carminho-Rodrigues, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, SwitzerlandKlee, Phillipe论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Dept Pediat Endocrinol, Geneva, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, SwitzerlandLaurent, Sacha论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, SwitzerlandGuipponi, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, SwitzerlandAbramowicz, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, SwitzerlandCao-van, Helene论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Dept ENT, Geneva, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland论文数: 引用数: h-index:机构:Paoloni-Giacobino, Ariane论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland Univ Hosp Geneva, Dept Genet Med, Rue Gabrielle Perret Gentil 4, CH-1211 Geneva 4, Switzerland
- [7] Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature reviewSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 114 : 111 - 120Zhang, Xin论文数: 0 引用数: 0 h-index: 0机构: Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R China Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaHan, Yuzeng论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaYang, Li论文数: 0 引用数: 0 h-index: 0机构: Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R China Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaXu, Na论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaZhu, Liping论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaQiu, Shiyan论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaLi, Yufen论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaXu, Liyun论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R ChinaYu, Xixi论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Pediat, 27 East Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China Jinzhou Med Univ, Linyi Peoples Hosp, Dept Pediat, Postgrad Training Base, Linyi 276003, Shandong, Peoples R China
- [8] KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature reviewEPILEPTIC DISORDERS, 2023, 25 (04) : 492 - 499Zhou, Yu论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Inst Brain Sci & Brain Inspired Technol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R ChinaHao, Nanya论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Inst Brain Sci & Brain Inspired Technol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R ChinaSander, Josemir W.论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Inst Brain Sci & Brain Inspired Technol, West China Hosp, Chengdu, Peoples R China UCL Queen Sq Inst Neurol, NIHR Univ Coll London Hosp Biomed Res Ctr, Queen Sq, London WC1N 3BG, England Chalfont Ctr Epilepsy, Gerrards Cross, England Stichting Epilepsie Instellingen Nederland, Heemstede, Netherlands Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R ChinaLin, Xu论文数: 0 引用数: 0 h-index: 0机构: Southwest Med Univ, Dept Neurol, Affiliated Chengdu Hosp 363, Chengdu, Sichuan, Peoples R China Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R ChinaXiong, Weixi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Inst Brain Sci & Brain Inspired Technol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R ChinaZhou, Dong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Inst Brain Sci & Brain Inspired Technol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Neurol, West China Hosp, Chengdu 610041, Sichuan, Peoples R China
- [9] NDUFS6 related Leigh syndrome: a case report and review of the literatureJOURNAL OF HUMAN GENETICS, 2019, 64 (07) : 637 - 645Rouzier, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceChaussenot, Annabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceFragaki, Konstantina论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceSerre, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Inst Jacques Monod, UMR7592 CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceAit-El-Mkadem, Samira论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceRichelme, Christian论文数: 0 引用数: 0 h-index: 0机构: ESPIC Lenval, Serv Pediat, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FrancePaquis-Flucklinger, Veronique论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, FranceBannwarth, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France Univ Cote dAzur, CHU Nice, IRCAN, INSERM,CNRS, Nice, France
- [10] A Chinese patient with POLR3A-related leukodystrophy: a case report and literature reviewFRONTIERS IN NEUROLOGY, 2023, 14Sun, Lei论文数: 0 引用数: 0 h-index: 0机构: First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R ChinaLin, Weihong论文数: 0 引用数: 0 h-index: 0机构: First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R ChinaMeng, Hongmei论文数: 0 引用数: 0 h-index: 0机构: First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R ChinaZhang, Wuqiong论文数: 0 引用数: 0 h-index: 0机构: First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R ChinaHou, Shuai论文数: 0 引用数: 0 h-index: 0机构: First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China First Hosp Jilin Univ, Dept Neurol, Changchun, Peoples R China