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- [21] Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network[J]. Italian Journal of Pediatrics, 46Marco Salvatore论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesAgata Polizzi论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesMaria Chiara De Stefano论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesGiovanna Floridia论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesSimone Baldovino论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesDario Roccatello论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesSavino Sciascia论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesElisa Menegatti论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesGiuseppe Remuzzi论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesErica Daina论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesParaskevas Iatropoulos论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesBruno Bembi论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesRosalia Maria Da Riol论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesAlessandra Ferlini论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesMarcella Neri论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesGiuseppe Novelli论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare Diseases论文数: 引用数: h-index:机构:Francesco Brancati论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare DiseasesDomenica Taruscio论文数: 0 引用数: 0 h-index: 0机构: Undiagnosed Rare Diseases Interdepartmental Unit,National Centre for Rare Diseases
- [22] Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases[J]. ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)Wang, Chiuhui Mary论文数: 0 引用数: 0 h-index: 0机构: Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceWhiting, Amy Heagle论文数: 0 引用数: 0 h-index: 0机构: Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceRath, Ana论文数: 0 引用数: 0 h-index: 0机构: INSERM, US14 Orphanet Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceAnido, Roberta论文数: 0 引用数: 0 h-index: 0机构: Federac Argentina Enfermedades Poco Frecuentes, Antonino Ferrari 1044, RA-1424 Buenos Aires, Argentina Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceArdigo, Diego论文数: 0 引用数: 0 h-index: 0机构: Chiesi Farmaceut SpA, Via Paradigna 131-A, Parma, Italy Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceBaynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: King Edward Mem Hosp, Perth Childrens Hosp & Western Australian Register, Rare Care Ctr, Western Australian Dept Hlth, Subiaco, WA, Australia Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceDawkins, Hugh论文数: 0 引用数: 0 h-index: 0机构: Univ Notre Dame Australia UNDA, Sch Med, 160 Oxford St, Darlinghurst, NSW, Australia Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceHamosh, Ada论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, 600 N Wolfe St,Blalock 1008, Baltimore, MD 21287 USA Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceLe Cam, Yann论文数: 0 引用数: 0 h-index: 0机构: EURORDIS Rare Dis Europe, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France论文数: 引用数: h-index:机构:Molster, Caron M.论文数: 0 引用数: 0 h-index: 0机构: West Australia Dept Hlth, Off Populat Hlth Genom, Level 3,C Block,189 Royal St, East Perth, WA 6004, Australia Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceMonaco, Lucia论文数: 0 引用数: 0 h-index: 0机构: Int Rare Dis Res Consortium IRDiRC, Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FrancePadilla, Carmencita D.论文数: 0 引用数: 0 h-index: 0机构: Univ Philippines Manila, Coll Med, Dept Pediat, Pedro Gil St,Taft Ave, Manila 1000, Philippines Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FrancePariser, Anne R.论文数: 0 引用数: 0 h-index: 0机构: Int Rare Dis Res Consortium IRDiRC, Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceRobinson, Peter N.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, 10 Discovery Dr, Farmington, CT 06032 USA Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceRodwell, Charlotte论文数: 0 引用数: 0 h-index: 0机构: INSERM, US14 Orphanet Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceSchaefer, Franz论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac Heidelberg, European Rare Kidney Dis Reference Network ERKNet, Neuenheimer Feld 130-3, D-69120 Heidelberg, Germany Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceWeber, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Fed Inst Drugs & Med Devices, Dept K Code Syst & Registers, Kurt Georg Kiesinger Allee 3, D-53175 Bonn, Germany Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, FranceMacchia, Flaminia论文数: 0 引用数: 0 h-index: 0机构: Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France Rare Dis Int, Plateforme Malad Rares, 96 Rue Didot, F-75014 Paris, France
- [23] Rare diseases, digitization, and the National Action League for People with Rare Diseases (NAMSE)[J]. BUNDESGESUNDHEITSBLATT-GESUNDHEITSFORSCHUNG-GESUNDHEITSSCHUTZ, 2022, 65 (11) : 1119 - 1125Wessel, Theda论文数: 0 引用数: 0 h-index: 0机构: Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, Germany Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, GermanyHeuing, Katharina论文数: 0 引用数: 0 h-index: 0机构: NAMSE Geschaftsstelle, Bonn, Germany Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, GermanySchlangen, Miriam论文数: 0 引用数: 0 h-index: 0机构: NAMSE Geschaftsstelle, Bonn, Germany Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, GermanySchnieders, Birgit论文数: 0 引用数: 0 h-index: 0机构: Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, Germany Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, GermanyAlgermissen, Markus论文数: 0 引用数: 0 h-index: 0机构: Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, Germany Bundesminist Gesundheit, Friedrichstr 108, D-10117 Berlin, Germany
- [24] The Italian approach to rare diseases and the action of the Italian National Centre for Rare Diseases[J]. EPIDEMIOLOGY BIOSTATISTICS AND PUBLIC HEALTH, 2009, 6 (04): : 267 - 272Taruscio, Domenica论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Rare Dis, Ist Super Sanita, Rome, Italy Natl Ctr Rare Dis, Ist Super Sanita, Rome, ItalyVittozzi, Luciano论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Rare Dis, Ist Super Sanita, Rome, Italy Natl Ctr Rare Dis, Ist Super Sanita, Rome, Italy
- [25] Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network[J]. ITALIAN JOURNAL OF PEDIATRICS, 2020, 46 (01)Salvatore, Marco论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyPolizzi, Agata论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Educ Sci, Catania, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyDe Stefano, Maria Chiara论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Transplantat Ctr, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyFloridia, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Bioeth Unit, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyBaldovino, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Clin & Biol Sci, Turin, Italy S Giovanni Bosco Hosp, Ctr Res Immunopathol & Rare Dis, Reg Coordinating Ctr Natl Network Rare Dis, Turin, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyRoccatello, Dario论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Clin & Biol Sci, Turin, Italy S Giovanni Bosco Hosp, Ctr Res Immunopathol & Rare Dis, Reg Coordinating Ctr Natl Network Rare Dis, Turin, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Remuzzi, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mario Negri Pharmacol Res Inst, Reg Coordinating Ctr Natl Network Rare Dis, Clin Res Ctr Rare Dis Aldo & Cele Dacco, Bergamo, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyDaina, Erica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mario Negri Pharmacol Res Inst, Reg Coordinating Ctr Natl Network Rare Dis, Clin Res Ctr Rare Dis Aldo & Cele Dacco, Bergamo, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyIatropoulos, Paraskevas论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mario Negri Pharmacol Res Inst, Reg Coordinating Ctr Natl Network Rare Dis, Clin Res Ctr Rare Dis Aldo & Cele Dacco, Bergamo, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyBembi, Bruno论文数: 0 引用数: 0 h-index: 0机构: Osped S Maria Misericordia, SOC Reg Coordinating Ctr Natl Network Rare Dis, Udine, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyDa Riol, Rosalia Maria论文数: 0 引用数: 0 h-index: 0机构: Osped S Maria Misericordia, SOC Reg Coordinating Ctr Natl Network Rare Dis, Udine, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Novelli, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Tor Vergata, Dept Biomed & Prevent, Rome, Italy Univ Hosp Tor Vergata, Unit Med Genet, Rome, Italy IRCCS Neuromed, Pozzilli, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalySangiuolo, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Tor Vergata, Dept Biomed & Prevent, Rome, Italy Univ Hosp Tor Vergata, Unit Med Genet, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyBrancati, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Aquila, Dept Life Hlth & Environm Sci, Unit Med Genet, Laquila, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, ItalyTaruscio, Domenica论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Undiagnosed Rare Dis Interdept Unit, Rome, Italy
- [26] Rare World: Towards Technology for Rare Diseases[J]. CHI 2015: PROCEEDINGS OF THE 33RD ANNUAL CHI CONFERENCE ON HUMAN FACTORS IN COMPUTING SYSTEMS, 2015, : 1145 - 1154MacLeod, Haley论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN 47405 USA Indiana Univ, Bloomington, IN 47405 USAOakes, Kim论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN 47405 USA Indiana Univ, Bloomington, IN 47405 USAGeisler, Danika论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN 47405 USA Indiana Univ, Bloomington, IN 47405 USAConnelly, Kay论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN 47405 USA Indiana Univ, Bloomington, IN 47405 USASiek, Katie论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN 47405 USA Indiana Univ, Bloomington, IN 47405 USA
- [27] Rare diseases and undiagnosed diseases: advances in neurodevelopment[J]. MEDICINA-BUENOS AIRES, 2023, 83 : 52 - 56Acosta, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: NIH, Natl Human Genome Res Inst, Undiagnosed Dis Program, Gene Therapy Program GM1, Bethesda, MD 20892 USA NIH, Natl Human Genome Res Inst, Undiagnosed Dis Program, Gene Therapy Program GM1, Bethesda, MD 20892 USA
- [28] Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network[J]. ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)de Oliveira, Bibiana Mello论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilBernardi, Filipe Andrade论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Engn Sch Sao Carlos, Bioengn Dept, Sao Carlos, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilBaiochi, Joao Francisco论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilNeiva, Mariane Barros论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Math & Comp Sci, Sao Carlos Campus, Sao Carlos, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilArtifon, Milena论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilVergara, Alberto Andrade论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Joao Paulo II, Belo Horizonte, MG, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilMartins, Ana Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Paulo, Sao Paulo, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilGrumach, Anete Sevciovic论文数: 0 引用数: 0 h-index: 0机构: Ctr Univ FMABC, Fac Med, Santo Andre, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilAcosta, Angelina Xavier论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Bahia, Hosp Univ Prof Edgar Santos, Salvador, BA, Brazil Univ Fed Bahia, Fac Med Bahia, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilEl Husny, Antonette Souto论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Para, Hosp Univ Bettina Ferro de Souza, BR-66075110 Belem, PA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilRibeiro, Bethania de Freitas Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Fundacao Hosp Estadual Acre, Rio Branco, AC, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilRamos, Camila Ferreira论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Prof Edgar Santos, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilSteiner, Carlos Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Campinas, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Crianca, Sao Paulo, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilChristofolini, Denise Maria论文数: 0 引用数: 0 h-index: 0机构: Ctr Univ FMABC, Fac Med, Santo Andre, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilYamada, Diego Bettiol论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilCarvalho, Ellaine Doris Fernandes论文数: 0 引用数: 0 h-index: 0机构: Hosp Geral Dr Cesar Cals, Fortaleza, CE, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilRibeiro, Erlane Marques论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Albert Sabin, Fortaleza, CE, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilBastos, Fabiola de Arruda论文数: 0 引用数: 0 h-index: 0机构: Ctr Univ Estado Para, Belem, PA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilSerpa, Faradiba Sarquis论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Casa de Misericordia Vitoria, Vitoria, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilBrandao, Flavia Reseda论文数: 0 引用数: 0 h-index: 0机构: Ctr Diabet & Endocrinol Bahia, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilAdjuto, Giselle Maria Araujo Felix论文数: 0 引用数: 0 h-index: 0机构: Hosp Apoio Brasilia, Brasilia, DF, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilCarvalho, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Math & Comp Sci, Sao Carlos Campus, Sao Carlos, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilSaute, Jonas Alex Morales论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilLlerena Junior, Juan Clinton论文数: 0 引用数: 0 h-index: 0机构: Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Ferna, Rio De Janeiro, RJ, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilBueno, Larissa Souza Mario论文数: 0 引用数: 0 h-index: 0机构: Maternidade Climerio Oliveira, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazilda Silva, Luiz Carlos Santana论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Para, Hosp Univ Bettina Ferro de Souza, BR-66075110 Belem, PA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilSantos, Mara Lucia Schmitz Ferreira论文数: 0 引用数: 0 h-index: 0机构: Hosp Pequeno Principe, Curitiba, PR, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilCosta, Marcela Camara Machado论文数: 0 引用数: 0 h-index: 0机构: Escola Bahiana Med & Saude Publ, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilGiusti, Marcia Maria Costa Giacon论文数: 0 引用数: 0 h-index: 0机构: Inst Jo Clemente, Sao Paulo, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilGalera, Marcial Francis论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Julio Muller, Cuiaba, MT, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilColombo Filho, Marcio Eloi论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Engn Sch Sao Carlos, Bioengn Dept, Sao Carlos, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazilde Andrade, Maria Denise Fernandes Carvalho论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Ceara, Hosp Univ Walter Cantidio, Fortaleza, CE, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilCardoso, Maria Teresinha De Oliveira论文数: 0 引用数: 0 h-index: 0机构: Hosp Apoio Brasilia, Brasilia, DF, Brazil Hosp Materno Infantil Brasilia, Brasilia, DF, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilFerreira, Marilaine Matos de Menezes论文数: 0 引用数: 0 h-index: 0机构: Escola Bahiana Med & Saude Publ, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilZeny, Michelle论文数: 0 引用数: 0 h-index: 0机构: Hosp Pequeno Principe, Curitiba, PR, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilCaldato, Milena Coelho Fernandes论文数: 0 引用数: 0 h-index: 0机构: Ctr Univ Para, Belem, PA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilSorte, Ney Boa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Prof Edgar Santos, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilMusolino, Nina Rosa de Castro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Fac Med, Inst Psiquiatria, Sao Paulo, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazilde Medeiros, Paula Frassinetti Vasconcelos论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Campina Grande, Hosp Univ Alcides Carneiro, Unidade Acad Med, Unidade Acad Med, Av Juvencio Arruda 795, BR-58430800 Campina Grande, PB, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilZen, Paulo Ricardo Gazzola论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Hosp Crianca Santo Antonio, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilDa Silva, Raquel Tavares Boy论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Pedro Ernesto, Rio De Janeiro, RJ, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilMaia, Rayana Elias论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lauro Wanderley EBSERH UFPB, Joao Pessoa, PB, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilFock, Rodrigo论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Paulo, Sao Paulo, SP, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilAlmeida, Rosemarie Elizabeth Schimidt论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Londrina, Londrina, PR, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilValle, Solange Oliveira Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Clementino Fraga Filho, Rio De Janeiro, RJ, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilAmorim, Tatiana论文数: 0 引用数: 0 h-index: 0机构: Assoc Pais & Amigos Excepcionais Salvador, Salvador, BA, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilTeixeira, Thais Bomfim论文数: 0 引用数: 0 h-index: 0机构: Secretaria Municipal Educ Anapolis GO SEMED, Anapolis, Go, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilPrazeres, Vania Mesquita Gadelha论文数: 0 引用数: 0 h-index: 0机构: Fundacao Bradesco Manaus, Manaus, AM, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilFerraz, Victor Evangelista de Faria论文数: 0 引用数: 0 h-index: 0机构: Univ Sao 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