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- [1] Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy[J]. NEUROMUSCULAR DISORDERS, 2019, 29 (08) : 628 - 633Cai, Shuang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaGao, Mingshi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Pathol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaXi, Jianying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaLiu, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Affiliated Hosp, Dept Neurol,Nanjing Drum Tower Hosp, Nanjing 210008, Jiangsu, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaYue, Dongyue论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Neurol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaWu, Hui论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Neurol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaBi, Haixia论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Pathol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaLi, Jing论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Radiol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaLiang, Zonghui论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Radiol, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China论文数: 引用数: h-index:机构:Udd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Medicum, Folkhalsan Res Ctr, Helsinki, Finland Univ Tampere, Neuromuscular Res Ctr, Tampere, Finland Tampere Univ Hosp, Tampere, Finland Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaLuo, Sushan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R ChinaLu, Jiahong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai 200040, Peoples R China
- [2] Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (03) : 1281 - 1289Gargiulo, Annagiusi论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, I-80131 Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyTesta, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Dept Ophthalmol, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyRossi, Settimio论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Dept Ophthalmol, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyDi Iorio, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Dept Ophthalmol, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyFecarotta, Simona论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, I-80131 Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, Italyde Berardinis, Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Ophthalmol Sci, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyIovine, Antonello论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Ophthalmol Sci, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyMagli, Adriano论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Ophthalmol Sci, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalySignorini, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Unit Child Neurol & Psychiat, IRCCS, Neurol Inst C Mondino, I-27100 Pavia, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyFazzi, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Mother & Child Dept, Brescia, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyGalantuomo, Maria Silvana论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Surg Sci & Transplantat, Cagliari, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyFossarello, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Surg Sci & Transplantat, Cagliari, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyMontefusco, Sandro论文数: 0 引用数: 0 h-index: 0机构: Univ Salerno, Dept Pharmaceut Sci, Fisciano, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyCiccodicola, Alfredo论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys Adriano Buzzati Traverso IGB, I-80125 Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyNeri, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Ophthalmol, I-43100 Parma, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalyMacaluso, Claudio论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Ophthalmol, I-43100 Parma, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalySimonelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Dept Ophthalmol, Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, ItalySurace, Enrico Maria论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, I-80131 Naples, Italy Telethon Inst Genet & Med, I-80131 Naples, Italy
- [3] Clinical and molecular features of a large cohort of Italian McArdle patients[J]. NEUROMUSCULAR DISORDERS, 2015, 25 : S219 - S219Cassandrini, D.论文数: 0 引用数: 0 h-index: 0机构: Fdn Stella Maris, Pisa, Italy Fdn Stella Maris, Pisa, ItalyTonin, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Verona, Italy Fdn Stella Maris, Pisa, ItalyMorandi, L.论文数: 0 引用数: 0 h-index: 0机构: Ist C Besta, Milan, Italy Fdn Stella Maris, Pisa, ItalyMusumeci, O.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Messina, Italy Fdn Stella Maris, Pisa, ItalyFilosto, M.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Brescia, Italy Fdn Stella Maris, Pisa, ItalySiciliano, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Pisa, Italy Fdn Stella Maris, Pisa, ItalyPegoraro, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Padua, Italy Fdn Stella Maris, Pisa, ItalySantoro, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Naples, Italy Fdn Stella Maris, Pisa, ItalyMassa, R.论文数: 0 引用数: 0 h-index: 0机构: Neurol Tor Vergata, Rome, Italy Fdn Stella Maris, Pisa, ItalyMongini, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Turin, Italy Fdn Stella Maris, Pisa, ItalySacchini, M.论文数: 0 引用数: 0 h-index: 0机构: Osped Meyer, Florence, Italy Fdn Stella Maris, Pisa, ItalyBertini, E.论文数: 0 引用数: 0 h-index: 0机构: Osp Bambin Gesu, Rome, Italy Fdn Stella Maris, Pisa, ItalyMarrosu, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Neurol, Cagliari, Italy Fdn Stella Maris, Pisa, ItalyRigoldi, M.论文数: 0 引用数: 0 h-index: 0机构: Osp San Gerardo, Monza, Italy Fdn Stella Maris, Pisa, ItalyBurlina, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Dept Pediat, Padua, Italy Fdn Stella Maris, Pisa, ItalyPini, A.论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, Bologna, Italy Fdn Stella Maris, Pisa, ItalyPrevitali, S.论文数: 0 引用数: 0 h-index: 0机构: Neurol Ist S Raffaele, Milan, Italy Fdn Stella Maris, Pisa, ItalySantorelli, F.论文数: 0 引用数: 0 h-index: 0机构: Fdn Stella Maris, Pisa, Italy Fdn Stella Maris, Pisa, ItalyToscano, A.论文数: 0 引用数: 0 h-index: 0机构: Fdn Stella Maris, Pisa, ItalyBruno, C.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Genoa, Italy Fdn Stella Maris, Pisa, Italy
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- [5] Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome[J]. HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 (02): : 119 - 126Al-Ashwal, Abdullah A.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaAl-Sagheir, Afaf论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaRamzan, Khushnooda论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, POB 3354,MBC 03, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaAl-Owain, Mohammed论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaAllam, Rabab论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, POB 3354,MBC 03, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaQari, Alya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaAl-Numair, Nouf S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, POB 3354,MBC 03, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi ArabiaImtiaz, Faiqa论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, POB 3354,MBC 03, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi Arabia
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Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainMandrile, Giorgia论文数: 0 引用数: 0 h-index: 0机构: San Luigi Univ Hosp, Dept Med Genet, Orbassano, Italy Univ Torino, Dept Clin & Biol Sci, Turin, Italy Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, Spainde la Flor Crespo, Monserrat论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Hosp Moraleja, Dept Pediat, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainSukchev, Mikhail论文数: 0 引用数: 0 h-index: 0机构: Alexion Pharmaceut, Diagnost Specialist, Moscow, Russia Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainSherif, Mostafa论文数: 0 引用数: 0 h-index: 0机构: Alexion Pharma Middle East, Div Med, Dubai Media City, U Arab Emirates Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainKramer, Iza论文数: 0 引用数: 0 h-index: 0机构: Privat Hosp Denmark, Dept Pediat, Charlottenlund, Denmark Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainDarnaude-Ortiz, Maria T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Mostoles, Dept Genet, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainArias, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, ISCIII, CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainGordo, Gema论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, ISCIII, CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainDapia, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, ISCIII, CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainMartinez-Villanueva, Julian论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ninno Jesus, IIS Princesa, Dept Endocrinol, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainGomez, Ruben论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Dept Biochem, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainManuel Iturzaeta, Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Dept Biochem, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainOtaify, Ghada论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Div Human Genet & Genome Res, Cairo, Egypt Natl Res Ctr, Ctr Excellence Human Genet, Cairo, Egypt Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainGarcia-Unzueta, Mayte论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Marques Valdecilla, IDIVAL, Dept Clin Biochem, Santander, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainRubinacci, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, Bone Metab Unit, Milan, Italy Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainRiancho, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cantabria, Hosp Univ Marques Valdecilla, RETICEF, IDIVAL,Dept Internal Med, Santander, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainAglan, Mona论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Div Human Genet & Genome Res, Cairo, Egypt Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainTemtamy, Samia论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Div Human Genet & Genome Res, Cairo, Egypt Natl Res Ctr, Ctr Excellence Human Genet, Cairo, Egypt Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainHamid, Mohamed Abdel论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Ctr Excellence Human Genet, Cairo, Egypt Natl Res Ctr, Dept Med Mol Genet, Div Human Genet & Genome Res, El Cairo, Egypt Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainArgente, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ninno Jesus, IIS Princesa, Dept Endocrinol, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Ctr Invest Biomed Red Fisiopatol Obesidad & Nutri, Inst Salud Carlos III, CIBEROBN, Madrid, Spain Univ Autonoma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM, IdiPAZ, Madrid, SpainRuiz-Perez, Victor L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras, ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit UMDE, Madrid, Spain Univ Autonoma Madrid, Consejo Super Investigac Cientif CSIC, Inst Invests Biol IB, Madrid, Spain Univ Autonoma 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