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- [1] Molecular analysis of a large cohort of Chinese patients with retinitis pigmentosa by Whole exome next generation sequencing[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)Zhu, Xianjun论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R China Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R ChinaHuang, Lulin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R China Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R ChinaLi, Yang论文数: 0 引用数: 0 h-index: 0机构: Tongren Hosp, Dept Ophthalmol, Beijing, Peoples R China Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R ChinaZhao, Peiquan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Dept Ophthalmol, Shanghai, Peoples R China Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R ChinaYang, Zhenglin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Dept Ophthalmol, Shanghai, Peoples R China Sichuan Prov Hosp, Ctr Human Mol Genet, Chengdu, Sichuan, Peoples R China
- [2] Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series[J]. JOURNAL OF PERSONALIZED MEDICINE, 2022, 12 (10):Maltoni, Giulio论文数: 0 引用数: 0 h-index: 0机构: S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyFranceschi, Roberto论文数: 0 引用数: 0 h-index: 0机构: S Chiara Hosp Trento, Pediat Unit, I-38122 Trento, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyDi Natale, Valeria论文数: 0 引用数: 0 h-index: 0机构: S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyAl-Qaisi, Randa论文数: 0 引用数: 0 h-index: 0机构: S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyGreco, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Dept CIBIO DMA, Adv Mol Diagnost Lab, I-38123 Trento, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyBertorelli, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Dept CIBIO, LaBSSAH, Next Generat Sequencing Core Facil, I-38123 Trento, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy论文数: 引用数: h-index:机构:Quattrone, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Dept CIBIO, Lab Translat Genom, I-38123 Trento, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyMantovani, Vilma论文数: 0 引用数: 0 h-index: 0机构: S Orsola Malpighi, CRBA, Appl Biomed Res Ctr, I-40138 Bologna, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyCauvin, Vittoria论文数: 0 引用数: 0 h-index: 0机构: S Chiara Hosp Trento, Pediat Unit, I-38122 Trento, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, ItalyZucchini, Stefano论文数: 0 引用数: 0 h-index: 0机构: S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy S Orsola Malpighi, IRCCS AOU, Pediat Unit, I-40138 Bologna, Italy
- [3] The Application of Next Generation Sequencing MODY Gene Panel in Greek Patients[J]. HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 236 - 236Tatsi, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece Aghia Sophia Childrens Hosp, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceSmirnaki, Penelopi论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceTriantafilou, Panagiota论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Med Sch, Dept Pediat 1, Thessaloniki, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceTsiroukidou, Kyriaki论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Med Sch, Dept Pediat 3, Thessaloniki, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceKotsa, Kalliopi论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Dept Internal Med 1, Div Endocrinol Diabet, Thessaloniki, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceLambadiari, Vaia论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Internal Med Propaedeut 2, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceChrousos, George论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece Aghia Sophia Childrens Hosp, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceKanaka-Gantenbein, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece Aghia Sophia Childrens Hosp, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, GreeceSertedaki, Amalia论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece Aghia Sophia Childrens Hosp, Athens, Greece Univ Athens, Med Sch, Dept Pediat 1, Div Endocrinol Metab & Diabet, Athens, Greece
- [4] Next-generation sequencing in Brazilian MODY patients: a pilot study[J]. Diabetology & Metabolic Syndrome, 7 (Suppl 1):Lílian Araújo Caetano论文数: 0 引用数: 0 h-index: 0机构: USP,Lucas Santos de Santana论文数: 0 引用数: 0 h-index: 0机构: USP,Antônio Marcondes Lerário论文数: 0 引用数: 0 h-index: 0机构: USP,Márcia Nery论文数: 0 引用数: 0 h-index: 0机构: USP,Alexander Augusto de Lima Jorge论文数: 0 引用数: 0 h-index: 0机构: USP,Milena Gurgel Teles论文数: 0 引用数: 0 h-index: 0机构: USP,
- [5] Prognostic Impact of Molecular Response Assessed By Next-Generation Sequencing in a Large Cohort of Multiple Myeloma Patients[J]. BLOOD, 2016, 128 (22)Sanchez-Vega, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre H12CNIO, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainAlonso, Rafael论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainCuenca, Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainBarrio, Santiago论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wurzburg, Dept Internal Med 2, Wurzburg, Germany Hosp Univ 12 Octubre H12CNIO, Madrid, SpainRuiz-Heredia, Yanira论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre H12CNIO, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainMarin, Carlos论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainRapado, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainJimenez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca IBSAL, Salamanca, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainAguirre, Xabier论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Med Aplicada CIMA, IDISNA, Pamplona, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainAyala, Rosa M.论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Hosp, Dept Hematol, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainCedena, Teresa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainPaiva, Bruno论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Med Aplicada CIMA, IDISNA, Pamplona, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainMateos, Maria-Victoria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca IBSAL, Salamanca, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainRosinol, Laura论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS, Dept Hematol Amyloidosis & Myeloma Unit, Hosp Clin, Barcelona, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainBlade, Joan论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS, Hosp Clin, Barcelona, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainSan Miguel, Jesus论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Med Aplicada CIMA, IDISNA, Pamplona, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainGarcia-Sanz, Ramon论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Salamanca HUS IBSAL, Dept Hematol, Salamanca, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainLahuerta, Juan Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, SpainMartinez-Lopez, Joaquin论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Hosp, Dept Hematol, Madrid, Spain Hosp Univ 12 Octubre H12CNIO, Madrid, Spain
- [6] Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth[J]. Orphanet Journal of Rare Diseases, 10Emily J. Todd论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchKyle S. Yau论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchRoyston Ong论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchJennie Slee论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchGeorge McGillivray论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchChristopher P. Barnett论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchGoknur Haliloglu论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchBeril Talim论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchZuhal Akcoren论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchAriana Kariminejad论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchAnita Cairns论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchNigel F. Clarke论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchMary-Louise Freckmann论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchNorma B. Romero论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchDenise Williams论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchCaroline A Sewry论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchAlison Colley论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchMonique M. Ryan论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchCathy Kiraly-Borri论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchPadma Sivadorai论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchRichard J.N. Allcock论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchDavid Beeson论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchSusan Maxwell论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchMark R. Davis论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchNigel G. Laing论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical ResearchGianina Ravenscroft论文数: 0 引用数: 0 h-index: 0机构: University of Western Australia,Harry Perkins Institute of Medical Research and the Centre for Medical Research
- [7] Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth[J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10Todd, Emily J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaYau, Kyle S.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaOng, Royston论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaSlee, Jennie论文数: 0 引用数: 0 h-index: 0机构: King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA 6000, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaMcGillivray, George论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaBarnett, Christopher P.论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, South Australia Clin Genet Serv, Paediat & Reprod Genet Unit, Adelaide, SA 5006, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaHaliloglu, Goknur论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Childrens Hosp, Dept Pediat Neurol, TR-06100 Ankara, Turkey Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaTalim, Beril论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Childrens Hosp, Pediat Pathol Unit, TR-06100 Ankara, Turkey Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaAkcoren, Zuhal论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Childrens Hosp, Pediat Pathol Unit, TR-06100 Ankara, Turkey Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaKariminejad, Ariana论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran 14656, Iran Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaCairns, Anita论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Herson, Qld 4029, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaFreckmann, Mary-Louise论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Randwick, NSW 2031, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaRomero, Norma B.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Myol, Unite Morphol Neuromusculaire, F-75651 Paris, France Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaWilliams, Denise论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England RJAH Orthopaed Hosp, Wolfson Ctr Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaSewry, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England RJAH Orthopaed Hosp, Wolfson Ctr Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaColley, Alison论文数: 0 引用数: 0 h-index: 0机构: South Western Sydney Local Hlth Dist, Dept Clin Genet, Liverpool, NSW 1871, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaRyan, Monique M.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Neurol, Melbourne, Vic 3000, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaKiraly-Borri, Cathy论文数: 0 引用数: 0 h-index: 0机构: Princess Margaret Hosp Children, Genet Serv Western Australia, Subiaco, WA 6008, Australia King Edward Mem Hosp Women, Subiaco, WA 6008, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaSivadorai, Padma论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Pathwest, Dept Diagnost Genom, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaAllcock, Richard J. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Lotterywest State Biomed Facil Genom, Perth, WA 6000, Australia Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6000, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia论文数: 引用数: h-index:机构:Maxwell, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Oxford OX3 9DS, England Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Pathwest, Dept Diagnost Genom, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia QEII Med Ctr, Pathwest, Dept Diagnost Genom, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, AustraliaRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia
- [8] Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (11) : 7369 - 7375Oishi, Maho论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanOishi, Akio论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanGotoh, Norimoto论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan论文数: 引用数: h-index:机构:Higasa, Koichiro论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanIida, Kei论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Med Res Support Ctr, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanMakiyama, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanMorooka, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanMatsuda, Fumihiko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, JapanYoshimura, Nagahisa论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto, Japan
- [9] Next Generation Sequencing in the Analysis of an Italian Cohort of Patients Affected by Nemaline Myopathy[J]. NEUROLOGY, 2013, 80Piga, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyRonchi, Dario论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyMagri, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyCorti, Stefania论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyGhezzi, Serena论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyMercuri, Eugenio论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Paediat, Policlin Gemelli, Rome, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Unit Mol Med Neuromuscular & Neurodegenerat Disor, Rome, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyToscano, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, AOU Policlin G Martino, Dept Neurosci, Messina, Italy Univ Messina, AOU Policlin G Martino, Messina, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyMoroni, Isabella论文数: 0 引用数: 0 h-index: 0机构: Neurol Inst C Besta, Pediat Neurol Unit, Milan, Italy Neurol Inst C Besta, Neuroradiol Unit, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyMoggio, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Dino Ferrari Ctr, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyD'Angelo, Maria论文数: 0 引用数: 0 h-index: 0机构: Sci Inst IRCCS Eugenio Medea, Parini, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyBruno, Claudio论文数: 0 引用数: 0 h-index: 0机构: G Gaslini Inst Children, Neuromuscular Dis Unit, Genoa, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, ItalyMora, Marina论文数: 0 引用数: 0 h-index: 0机构: Neurol Inst C Besta, Pediat Neurol Unit, Milan, Italy Neurol Inst C Besta, Neuroradiol Unit, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy论文数: 引用数: h-index:机构:Comi, Giacomo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy IRCCS Fdn Ca Granda Osped Maggiore Policlin, Milan, Italy Univ Milan, Neurol Unit, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat DEPT, Milan, Italy
- [10] Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing[J]. Acta Diabetologica, 2019, 56 : 515 - 523Hamza Dallali论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSerena Pezzilli论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMeriem Hechmi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsOm Kalthoum Sallem论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSahar Elouej论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsHaifa Jmel论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsYosra Ben Halima论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMariem Chargui论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMariem Gharbi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsLuana Mercuri论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsFederica Alberico论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsTommaso Mazza论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsAfaf Bahlous论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMelika Ben Ahmed论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsHenda Jamoussi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsAbdelmajid Abid论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsVincenzo Trischitta论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSonia Abdelhak论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSabrina Prudente论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsRym Kefi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and Oncogenetics