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- [21] A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticityNEUROBIOLOGY OF DISEASE, 2019, 130Gao, Andy Y. L.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Integrated Program Neurosci, Montreal, PQ, Canada McGill Univ, Integrated Program Neurosci, Montreal, PQ, CanadaIlie, Alina论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Physiol, Montreal, PQ, Canada McGill Univ, Integrated Program Neurosci, Montreal, PQ, CanadaChang, Philip K. Y.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Pharmacol Therapeut, Montreal, PQ, Canada McGill Univ, Integrated Program Neurosci, Montreal, PQ, CanadaOrlowski, John论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Physiol, Montreal, PQ, Canada McGill Univ, Integrated Program Neurosci, Montreal, PQ, CanadaMcKinney, R. Anne论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Pharmacol Therapeut, Montreal, PQ, Canada McGill Univ, Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Integrated Program Neurosci, Montreal, PQ, Canada
- [22] The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literatureHuman Genetics, 2016, 135 : 841 - 850Pierre Sinajon论文数: 0 引用数: 0 h-index: 0机构: The Hospital for Sick Children,Division of Clinical and Metabolic GeneticsDeborah Verbaan论文数: 0 引用数: 0 h-index: 0机构: The Hospital for Sick Children,Division of Clinical and Metabolic GeneticsJoyce So论文数: 0 引用数: 0 h-index: 0机构: The Hospital for Sick Children,Division of Clinical and Metabolic Genetics
- [23] Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (01):Aguilera, Cinthia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainGabau, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainLaurie, Steve论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainBaena, Neus论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainDerdak, Sophia论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainCapdevila, Nuria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainRamirez, Ariadna论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainDelgadillo, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainJesus Garcia-Catalan, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainBrun, Carme论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainGuitart, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, SpainRuiz, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, Spain Univ Autonoma Barcelona, I3PT, Parc Tauli Hosp Univ, Genet Lab,UDIAT Ctr Diagnost, Sabadell, Spain
- [24] Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndromeCNS NEUROSCIENCE & THERAPEUTICS, 2023, 29 (12) : 4059 - 4069He, Hailan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Hunan Intellectual & Dev Disabil Res Ctr, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaZhang, Huiwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Shanghai Inst Pediat Res, Sch Med,Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaChen, Hui论文数: 0 引用数: 0 h-index: 0机构: Jiangxi Prov Childrens Hosp, Dept Neurol, Nanchang, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaHe, Fang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Hunan Intellectual & Dev Disabil Res Ctr, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaYin, Fei论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Hunan Intellectual & Dev Disabil Res Ctr, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaStauber, Tobias论文数: 0 引用数: 0 h-index: 0机构: MSH Med Sch Hamburg, Dept Human Med, Hamburg, Germany MSH Med Sch Hamburg, Inst Mol Med, Hamburg, Germany Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaZou, Xiaomin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Hunan Intellectual & Dev Disabil Res Ctr, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Xiangya Rd 87, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R ChinaPeng, Jing论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Hunan Intellectual & Dev Disabil Res Ctr, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Xiangya Rd 87, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China
- [25] Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case ReportMEDICINA-LITHUANIA, 2022, 58 (03):Petraityte, Gunda论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaMikstiene, Violeta论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaSiavriene, Evelina论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaCimbalistiene, Loreta论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaMaldziene, Zivile论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaRancelis, Tautvydas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaVaiteniene, Evelina Marija论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaAmbrozaityte, Laima论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaDapkunas, Justas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Life Sci Ctr, Inst Biotechnol, Dept Bioinformat, LT-10257 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaDzindzalieta, Ramunas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Math & Informat, Inst Comp Sci, Dept Software Engn, LT-03225 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania论文数: 引用数: h-index:机构:Kucinskas, Vaidutis论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaUtkus, Algirdas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Biobank Lithuanian Populat & Rare Disorders, LT-03101 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, LithuaniaPreiksaitiene, Egle论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, LT-08661 Vilnius, Lithuania
- [26] Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndromeJOURNAL OF BIOLOGICAL CHEMISTRY, 2020, 295 (20) : 7075 - 7095Ilie, Alina论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, CanadaBoucher, Annie论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, CanadaPark, Jaeok论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Biochem, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, CanadaBerghuis, Albert Marinus论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Biochem, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, CanadaMcKinney, R. Anne论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, CanadaOrlowski, John论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, Canada McGill Univ, Dept Physiol, Bellini Pavil,Rm 166, Montreal, PQ H3G 0B1, Canada
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- [28] Functional analysis of a novel c.899+1G>A variant in SLC9A6 geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1405 - 1405Petraityte, G.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaSiavriene, E.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaMikstiene, V.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Hosp Santaros Klin, Ctr Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaMaldziene, Z.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Hosp Santaros Klin, Ctr Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaRancelis, T.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Hosp Santaros Klin, Ctr Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaUtkus, A.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Hosp Santaros Klin, Ctr Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaPreiksaitiene, E.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Hosp Santaros Klin, Ctr Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, LithuaniaKucinskas, V.论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania
- [29] Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature reviewJOURNAL OF CLINICAL LABORATORY ANALYSIS, 2022, 36 (01)Zhang, Xiaoge论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaWu, Xiaofang论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaLiu, Hongli论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaSong, Tingting论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaJiang, Yongsheng论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaHe, Hanhan论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaYang, Shaoqing论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Natl Clin Res Ctr Oral Dis, Clin Oral Rare & Genet Dis, State Key Lab Mil Stomatol,Dept Oral Biol,Sch Sto, Xian 710032, Shaanxi, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R ChinaXie, Yun论文数: 0 引用数: 0 h-index: 0机构: Northwest Womens & Childrens Hosp, Dept Clin Lab, Xian 710061, Shaanxi, Peoples R China Northwest Womens & Childrens Hosp, Dept Pediat, Xian, Peoples R China
- [30] A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathMolecular Neurodegeneration, 11Alina Ilie论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyAndy Y. L. Gao论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyJonathan Reid论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyAnnie Boucher论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyCassandra McEwan论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyHervé Barrière论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyGergely L. Lukacs论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyR. Anne McKinney论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of PhysiologyJohn Orlowski论文数: 0 引用数: 0 h-index: 0机构: McGill University,Department of Physiology