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- [1] Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesGENETICS IN MEDICINE, 2018, 20 (04) : 464 - 469Pena, Loren D. M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAJiang, Yong-Hui论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USASchoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USASpillmann, Rebecca C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAWalley, Nicole论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAStong, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAHorn, Sarah Rapisardo论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USASullivan, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAMcConkie-Rosell, Allyn论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAKansagra, Sujay论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Neurol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USASmith, Edward C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Neurol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAEl-Dairi, Mays论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USABellet, Jane论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Dermatol, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAKeels, Martha Ann论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Surg, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAJasien, Joan论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Neurol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAKranz, Peter G.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Radiol, Div Neuroradiol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USANoel, Richard论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Gastroenterol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USANagaraj, Shashi K.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Pediat Nephrol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USALark, Robert K.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Orthoped Surg, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAWechsler, Daniel S. G.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Pediat Hematol Oncol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAdel Gaudio, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USALeung, Marco L.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAHendon, Laura G.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Div Maternal Fetal Med, Jackson, MS 39216 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAParker, Collette C.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Pediat, Div Child Neurol, Jackson, MS 39216 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAJones, Kelly L.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Pediat, Div Med Genet, Jackson, MS 39216 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA
- [2] Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S73 - S73Quaio, Caio Robledo论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilMoreira, Caroline Monaco论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilNovo Filho, Gil Monteiro论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilSacramento-Bobo, Patricia Rossi论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilPerazzio, Sandro Felix论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilDutra, Aurelio Pimenta论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilPenna, Michele Groenner论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, Brazilda Silva, Rafael Alves论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilRamalho, Rodrigo Fernandes论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilFloriano de Sousa, Rafaela Rogerio论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilMitne-Neto, Miguel论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, Brazilda Rosa Baratela, Wagner Antonio论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Fleury Med & Saude, Sao Paulo, Brazil
- [3] Diagnostic Power and Clinical Impact of Exome Sequencing in a Cohort of 500 Patients with Rare DiseasesEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 477 - 477Quaio, Caio Robledo D. A. C.论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilMoreira, Caroline Monaco论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilNovo Filho, Gil Monteiro论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilSacramento-Bobotis, Patricia Rossi论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilPerazzio, Sandro Felix论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilDutra, Aurelio Pimenta论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilPenna, Michele Groenner论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, Brazilde Silva, Rafael Alves论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilRamalho, Rodrigo Fernandes论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilFloriano de Sousa, Rafaela Rogerio论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilMitne-Neto, Miguel论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, Brazilda Rosa Baratela, Wagner Antonio论文数: 0 引用数: 0 h-index: 0机构: Fleury Med & Saude, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Inst Crianca, Sao Paulo, SP, Brazil Fleury Med & Saude, Sao Paulo, SP, Brazil
- [4] Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesAMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020, 184 (04) : 955 - 964Quaio, Caio Robledo D'Angioli Costa论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Hosp Clin HCFMUSP, Inst Crianca,Childrens Hosp, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilMoreira, Caroline Monaco论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilNovo-Filho, Gil Monteiro论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilSacramento-Bobotis, Patricia Rossi论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilGroenner Penna, Michele论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPerazzio, Sandro Felix论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Med, Rheumatol Div, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilDutra, Aurelio Pimenta论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazilda Silva, Rafael Alves论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Lab Hepatol Mol Aplicada LHeMA, Escola Paulista Med, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilSantos, Monize Nakamoto Provisor论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazilde Arruda, Vanessa Yurie Nozaki论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilFreitas, Vanessa Galdeno论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Sao Paulo, Inst Matemat & Estat, Sao Paulo, SP, Brazil Hosp Sirio Libanes, Inst Ensino & Pesquisa, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPereira, Vinicius Ceola论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPintao, Maria Carolina论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilFornari, Alexandre Ricardo dos Santos论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilBuzolin, Ana Ligia论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilOku, Andre Yuji论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilBurger, Matheus论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilRamalho, Rodrigo Fernandes论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilMarco Antonio, David Santos论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilNapolitano e Ferreira, Elisa论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPereira, Otavio Jose Eulalio论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilCantagalli, 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Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPaixao, Daniele论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilOlivati, Caroline论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilSpolador, Gustavo Marquezani论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilMaciel, Gustavo Arantes Rosa论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Hosp Clin HCFMUSP, Discipline Gynecol, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilRocha, Viviane Zorzanelli论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Hosp Clin HCFMUSP, Heart Inst InCor, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilMiguelez, Javier论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazilde Carvalho, Mario Henrique Burlacchini论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med FMUSP, Dept Obstet & Ginecol, Disciplina Obstet, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazilde Souza, Alexandre Wagner Silva论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Med, Rheumatol Div, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilAndrade, Luis Eduardo Coelho论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Dept Med, Rheumatol Div, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilChauffaille, Maria de Lourdes论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilPerazzio, Aline dos Santos Borgo论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilCatelani, Ana Lucia Pereira Monteiro论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilMitne-Neto, Miguel论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin HCFMUSP, Inst Crianca,Childrens Hosp, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, BrazilBaratela, Wagner Antonio da Rosa论文数: 0 引用数: 0 h-index: 0机构: Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil Grp Fleury, Fleury Med & Saude, Sao Paulo, SP, Brazil
- [5] Diagnostic yield of clinical exome testing in neurology patients of from tertiary care centreJOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429Anshu, Piyush论文数: 0 引用数: 0 h-index: 0机构: Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, India Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, IndiaAgrawal, Shruti论文数: 0 引用数: 0 h-index: 0机构: Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, India Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, IndiaJain, Neeraj论文数: 0 引用数: 0 h-index: 0机构: Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, India Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, IndiaRavat, Sangeeta论文数: 0 引用数: 0 h-index: 0机构: Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, India Seth GSMC & KEM Hosp Mumbai, Neurol, Mumbai, Maharashtra, India
- [6] Living With and Treating Rare Diseases: Experiences of Patients and Professional Health Care ProvidersQUALITATIVE HEALTH RESEARCH, 2015, 25 (05) : 636 - 651Garrino, Lorenza论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Nursing Sci, I-10126 Turin, Italy Univ Turin, Nursing, I-10126 Turin, Italy Univ Turin, Nursing Sci, I-10126 Turin, ItalyPicco, Elisa论文数: 0 引用数: 0 h-index: 0机构: Umberto Parini Hosp, Aosta, Italy Univ Turin, Nursing Sci, I-10126 Turin, ItalyFiniguerra, Ivana论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Bosco Hosp, Nursing Serv, Turin, Italy Univ Turin, Nursing Sci, I-10126 Turin, ItalyRossi, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, I-10126 Turin, Italy San Giovanni Bosco Hosp, Rheumatol Serv, Ctr Immunopathol & Documentat Rare Dis, Turin, Italy Univ Turin, Nursing Sci, I-10126 Turin, ItalySimone, Paola论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Bosco Hosp, Nursing Serv, Turin, Italy Univ Turin, Nursing Sci, I-10126 Turin, ItalyRoccatello, Dario论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Clin Pathol, Dept Med & Sperimental Oncol, I-10126 Turin, Italy Univ Turin, Nursing Sci, I-10126 Turin, Italy
- [7] Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entitiesEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 52 - 53Lindstrand, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenStranneheim, H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenLagerstedt-Robinson, K.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenKvarnung, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenLesko, N.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNilsson, D.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenAnderlid, B.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenArnell, H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenJohansson, C. Backman论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenBarbaro, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenBjorck, E.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenBruhn, H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenEisfeldt, J.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenEngvall, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenFreyer, C.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden论文数: 引用数: h-index:机构:Gustavsson, P.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenHammarsjo, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenHellstrom-Pigg, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenJemt, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenLaaksonen, M.论文数: 0 引用数: 0 h-index: 0机构: KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenEnoksson, S. Lind论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Immunol & Transfus Med, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMagnusson, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMalmgren, H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNaess, K.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNordenskjold, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenOscarson, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenPettersson, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenRasi, C.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenRosenbaum, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenSahlin, E.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenStodberg, T.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenTesi, B.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenTham, E.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenThonberg, H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Swedenvon Dobeln, U.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenVonlanthen, S.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Immunol & Transfus Med, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWikstrom, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Immunol & Transfus Med, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWincent, J.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWinqvist, O.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Immunol & Transfus Med, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWredenberg, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden论文数: 引用数: h-index:机构:Zetterstrom, R. H.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMarits, P.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Immunol & Transfus Med, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenJohansson-Soller, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenSoller, M. Johansson论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNordgren, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWirta, V.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Sci Life Lab, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWedell, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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