共 50 条
- [1] BIOMARKERS AND PERSONALIZED MEDICINE IN RARE DISEASESARBOR-CIENCIA PENSAMIENTO Y CULTURA, 2018, 194 (789)Palau, Francesc论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Barcelona, Inst Salud Carlos III, Hosp St Joan de Deu,CIBERER,ICMiD, Barcelona, Spain Univ Barcelona, Hosp Clin Barcelona, Inst Salud Carlos III, Hosp St Joan de Deu,CIBERER,ICMiD, Barcelona, Spain
- [2] PERSONALIZED MEDICINE IN RARE DISEASES: A FOCUS ON MITOCHONDRIAL DISEASESMEDICINE, 2021, 100 (04)Nogueira, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Unidade Rastreio Neonatal Metab & Genet, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalPereira, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Unidade Rastreio Neonatal Metab & Genet, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalSilva, L.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalTeles, Leao E.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Sao Joao, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalRodrigues, E.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Sao Joao, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalCampos, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Sao Joao, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalJaneiro, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, EPE, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalGaspar, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, EPE, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalDupont, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, EPE, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalBandeira, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Porto, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalMartins, E.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Porto, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalSoares, G.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Porto, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalMagalhaes, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Porto, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalSequeira, S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, EPE, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalVieira, J. P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, EPE, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalSantos, H.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Vila Nova de Gaia, EPE, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, PortugalVilarinho, L.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Unidade Rastreio Neonatal Metab & Genet, Porto, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Genet Humana, Unidade I&D, Porto, Portugal
- [3] Genetics of personalized medicine: cancer and rare diseasesCellular Oncology, 2018, 41 : 335 - 341Inês Teles Siefers Alves论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryManuel Condinho论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistrySónia Custódio论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryBruna F. Pereira论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryRafael Fernandes论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryVânia Gonçalves论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryPaulo J. da Costa论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryRafaela Lacerda论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryAna Rita Marques论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryPatrícia Martins-Dias论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryGonçalo R. Nogueira论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryAna Rita Neves论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryPatrícia Pinho论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryRaquel Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryEva Rolo论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryJoana Silva论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryAndré Travessa论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryRosário Pinto Leite论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryAna Sousa论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and BiochemistryLuísa Romão论文数: 0 引用数: 0 h-index: 0机构: Springer Science + Business Media B.V,Department of Cell Biology and Biochemistry
- [4] Personalized Medicine: What's in it for Rare Diseases?RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW, 2ND EDITION, 2017, 1031 : 387 - 404Halfmann, Sebastian Schee Genannt论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, NetherlandsMahlmann, Laura论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands Univ Basel, Dept Psyciatry UPK, Wilhelm Klein Str 27, CH-4012 Basel, Switzerland Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, NetherlandsLeyens, Lada论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands Swissmedic, Hallerstr 7, CH-3000 Bern 9, Switzerland Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, NetherlandsReumann, Matthias论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands IBM Res Zurich, Saeumerstr 4, CH-8803 Ruschlikon, Switzerland Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, NetherlandsBrand, Angela论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands Maastricht Univ, Fac Hlth Med & Life Sci, Dept Int Hlth, Duboisdomein 30, NL-6229 GT Maastricht, Netherlands Maastricht Univ, Maastricht Econ & Social Res Inst Innovat & Techn, Boschstr 24, NL-6211 AX Maastricht, Netherlands
- [5] Genetics of personalized medicine: cancer and rare diseasesCELLULAR ONCOLOGY, 2018, 41 (03) : 335 - 341Alves, Ines Teles Siefers论文数: 0 引用数: 0 h-index: 0机构: Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, Netherlands Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsCondinho, Manuel论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsCustodio, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Pediat Dept, Med Genet Serv, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsPereira, Bruna F.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, Netherlands论文数: 引用数: h-index:机构:Goncalves, Vania论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, Netherlandsda Costa, Paulo J.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsLacerda, Rafaela论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsMarques, Ana Rita论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsMartins-Dias, Patricia论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsNogueira, Goncalo R.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsNeves, Ana Rita论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsPinho, Patricia论文数: 0 引用数: 0 h-index: 0机构: Hosp Ctr Tras Os Montes & Alto Douro, Genet Lab, Vila Real, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsRodrigues, Raquel论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Pediat Dept, Med Genet Serv, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsRolo, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Pediat Dept, Med Genet Serv, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsSilva, Joana论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsTravessa, Andre论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Pediat Dept, Med Genet Serv, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsLeite, Rosario Pinto论文数: 0 引用数: 0 h-index: 0机构: Hosp Ctr Tras Os Montes & Alto Douro, Genet Lab, Vila Real, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsSousa, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Pediat Dept, Med Genet Serv, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, NetherlandsRomao, Luisa论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Doutor Ricardo Jorge, Dept Human Genet, Lisbon, Portugal Univ Lisbon, Fac Sci, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal Springer Sci Business Media BV, Dept Cell Biol & Biochem, Van Godewijckstr 30, NL-3311 GX Dordrecht, Netherlands
- [6] Rare diseases and omics-driven personalized medicineCROATIAN MEDICAL JOURNAL, 2019, 60 (06) : 485 - 487Simic, Goran论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Sch Med, Croatian Inst Brain Res, Dept Neurosci, Zagreb, Croatia Univ Zagreb, Sch Med, Croatian Inst Brain Res, Dept Neurosci, Zagreb, Croatia
- [7] Rare Cardiovascular Diseases: From Genetics to Personalized Medicine PrefaceHEART FAILURE CLINICS, 2022, 18 (01) : XIX - XXILimongelli, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, AO Colli Monaldi Hosp, Via L Bianchi, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, AO Colli Monaldi Hosp, Via L Bianchi, I-80131 Naples, ItalyMonda, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Via L Bianchi, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, AO Colli Monaldi Hosp, Via L Bianchi, I-80131 Naples, ItalyLioncino, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Via L Bianchi, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, AO Colli Monaldi Hosp, Via L Bianchi, I-80131 Naples, ItalyBossone, Eduardo论文数: 0 引用数: 0 h-index: 0机构: AORN Antonio Cardarelli Hosp, Div Cardiol, Naples, Italy Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, AO Colli Monaldi Hosp, Via L Bianchi, I-80131 Naples, Italy
- [8] Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicineEPMA Journal, 2016, 7Basri Gülbakan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child HealthRıza Köksal Özgül论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child HealthAyşe Yüzbaşıoğlu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child HealthMatthias Kohl论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child HealthHans-Peter Deigner论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child HealthMeral Özgüç论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Pediatric Metabolism Unit, Institute of Child Health
- [9] Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicineEPMA JOURNAL, 2016, 7论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Yuzbasioglu, Ayse论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Biol, Fac Med, Ankara, Turkey Hacettepe Univ, Biobank Rare Dis, Fac Med, Ankara, Turkey Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, TurkeyKohl, Matthias论文数: 0 引用数: 0 h-index: 0机构: Furtwangen Univ, Inst Precis Med, Med & Life Sci Fac, Villingen Schwenningen, Germany Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, TurkeyDeigner, Hans-Peter论文数: 0 引用数: 0 h-index: 0机构: Furtwangen Univ, Inst Precis Med, Med & Life Sci Fac, Villingen Schwenningen, Germany Fraunhofer Inst IZI, EXIM Dept, Rostock, Germany Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, TurkeyOzguc, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Biol, Fac Med, Ankara, Turkey Hacettepe Univ, Biobank Rare Dis, Fac Med, Ankara, Turkey Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, Turkey
- [10] X. Fuerstenrieder Symposium: Rare Diseases Personalized Medicine for Children and AdultsMEDIZINISCHE GENETIK, 2019, 31 (04) : 438 - 438不详论文数: 0 引用数: 0 h-index: 0