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- [1] The Importance of Hematology Working Groups for Rare Genetic Diseases[J]. BLOOD, 2020, 136Elbagoury, Marwan论文数: 0 引用数: 0 h-index: 0Kashari, Ohoud F.论文数: 0 引用数: 0 h-index: 0
- [2] The importance of international collaboration for rare diseases research: a European perspective[J]. Gene Therapy, 2017, 24 : 562 - 571D Julkowska论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyC P Austin论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyC M Cutillo论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyD Gancberg论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyC Hager论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyJ Halftermeyer论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyA H Jonker论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyL P L Lau论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyI Norstedt论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyA Rath论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyR Schuster论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyE Simelyte论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & BiologyS van Weely论文数: 0 引用数: 0 h-index: 0机构: Agence Nationale de la Recherche,Department of Health & Biology
- [3] The importance of international collaboration for rare diseases research: a European perspective[J]. GENE THERAPY, 2017, 24 (09) : 562 - 571Julkowska, D.论文数: 0 引用数: 0 h-index: 0机构: Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, France Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceAustin, C. P.论文数: 0 引用数: 0 h-index: 0机构: NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceCutillo, C. M.论文数: 0 引用数: 0 h-index: 0机构: NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceGancberg, D.论文数: 0 引用数: 0 h-index: 0机构: European Commiss, Directorate Gen Res & Innovat, Directorate Hlth, Brussels, Belgium Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceHager, C.论文数: 0 引用数: 0 h-index: 0机构: European Commiss, Directorate Gen Hlth & Food Safety, Directorate Hlth Syst Med Prod & Innovat, Brussels, Belgium Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceHalftermeyer, J.论文数: 0 引用数: 0 h-index: 0机构: Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, France Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceJonker, A. H.论文数: 0 引用数: 0 h-index: 0机构: INSERM, US14, IRDiRC Sci Secretariat, Paris, France Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceLau, L. P. L.论文数: 0 引用数: 0 h-index: 0机构: INSERM, US14, IRDiRC Sci Secretariat, Paris, France Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceNorstedt, I.论文数: 0 引用数: 0 h-index: 0机构: European Commiss, Directorate Gen Res & Innovat, Directorate Hlth, Brussels, Belgium Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceRath, A.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Orphanet US14, Paris, France Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceSchuster, R.论文数: 0 引用数: 0 h-index: 0机构: DLR Project Management Agcy, Hlth, Bonn, Germany Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, FranceSimelyte, E.论文数: 0 引用数: 0 h-index: 0机构: European Commiss, Directorate Gen Res & Innovat, Directorate Hlth, Brussels, Belgium Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, Francevan Weely, S.论文数: 0 引用数: 0 h-index: 0机构: Netherlands Org Hlth Res & Dev ZonMw, The Hague, Netherlands Agence Natl Rech, Dept Hlth & Biol, 50 Ave Daumesnil, F-75012 Paris, France
- [4] Clinical research challenges in rare genetic diseases in Brazil[J]. GENETICS AND MOLECULAR BIOLOGY, 2019, 42 (01) : 305 - 311Giugliani, Luciana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Natl Inst Populat Med Genet INAGEMP, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, BrazilVanzella, Claudia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, BrazilZambrano, Marina Bauer论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, BrazilDonis, Karina Carvalho论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, BrazilWendland Wallau, Thais Klassmann论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazilda Costa, Fernando Machado论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, BrazilGiugliani, Roberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Natl Inst Populat Med Genet INAGEMP, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre, Clin Res Grp Med Genet, Porto Alegre, RS, Brazil
- [5] Advancing diagnosis and research for rare genetic diseases in Indigenous[J]. NATURE GENETICS, 2024, 56 (02) : 189 - 193Baynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australia Univ Western Australia, Fac Hlth & Med, Div Pediat, Perth, WA, Australia Univ Western Australia, Telethon Kids Inst, Perth, WA, Australia Univ Notre Dame, Fac Med, Fremantle, WA, Australia Curtin Univ, Fac Sci & Engn, Spatial Sci, Perth, WA, Australia Notre Dame Univ, Fac Med, Perth, WA, Australia Univ Melbourne, Sch Populat & Global Hlth, Melbourne, Vic, Australia Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaJulkowska, Daria论文数: 0 引用数: 0 h-index: 0机构: Inserm, IRDiRC Sci Secretariat, French Natl Inst Hlth & Med Res, Paris, France Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaBowdin, Sarah论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Clin Genet, Cambridge, England Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaHermes, Azure论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Natl Ctr Indigenous Genom, Canberra, ACT, Australia Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaMcMaster, Christopher R.论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS, Canada Canadian Inst Hlth Res, Inst Genet, Halifax, NS, Canada Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaPrichep, Elissa论文数: 0 引用数: 0 h-index: 0机构: World Econ Forum, Platform Shaping Future Hlth & Healthcare, New York, NY USA Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaRicher, Etienne论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS, Canada Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australiavan der Westhuizen, Francois H.论文数: 0 引用数: 0 h-index: 0机构: Northwest Univ, Human Metabol, Potchefstroom, South Africa Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaRepetto, Gabriela M.论文数: 0 引用数: 0 h-index: 0机构: Univ Desarrollo, Ctr Genet & Genom, Fac Med, Clin Alemana, Santiago, Chile Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaMalherbe, Helen论文数: 0 引用数: 0 h-index: 0机构: Univ Pretoria, Dept Biochem Genet & Microbiol, Pretoria, South Africa Rare Dis South Africa, Johannesburg, South Africa Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaReichardt, Juergen K. V.论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ, Australian Inst Trop Hlth & Med, Smithfield, RI, Australia Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaArbour, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Victoria, BC, Canada Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaHudson, Maui论文数: 0 引用数: 0 h-index: 0机构: Univ Waikato, Fac Maori & Indigenous Studies, Hamilton, New Zealand Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australiadu Plessis, Kelly论文数: 0 引用数: 0 h-index: 0机构: Rare Dis South Africa, Johannesburg, South Africa Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australia论文数: 引用数: h-index:机构:Wilcox, Phillip论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Math & Stat, Dunedin, New Zealand Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: Mater Misericordiae Univ Hosp, Natl Rare Dis Off, Dublin, Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Dublin, Ireland Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaRind, Shamir论文数: 0 引用数: 0 h-index: 0机构: Western Australian Register Dev Anomalies, Perth, WA, Australia Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaEasteal, Simon论文数: 0 引用数: 0 h-index: 0机构: Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaEstivill, Xavier论文数: 0 引用数: 0 h-index: 0机构: Quantitat Genom Med Labs qgen, Barcelona, Spain Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaCaron, Nadine论文数: 0 引用数: 0 h-index: 0机构: UBC Ctr Excellence Indigenous Hlth, Vancouver, BC, Canada Univ British Columbia, Northern Med Program, Prince George, BC, Canada Univ British Columbia, Dept Surg, Prince George, BC, Canada Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaChongo, Meck论文数: 0 引用数: 0 h-index: 0机构: UBC Ctr Excellence Indigenous Hlth, Vancouver, BC, Canada Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaThomas, Yarlalu论文数: 0 引用数: 0 h-index: 0机构: Western Australian Register Dev Anomalies, Perth, WA, Australia Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaLetinturier, Mary Catherine V.论文数: 0 引用数: 0 h-index: 0机构: Inserm, IRDiRC Sci Secretariat, French Natl Inst Hlth & Med Res, Paris, France Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, AustraliaVorster, Barend Christiaan论文数: 0 引用数: 0 h-index: 0机构: Northwest Univ, Ctr Human Metabol, Cape Town, South Africa Govt Western Australia, Dept Hlth, Rare Care Ctr & Genet Serv Western Australia, Perth, WA, Australia
- [6] The importance of rare diseases for psychiatry[J]. LANCET PSYCHIATRY, 2016, 3 (12): : 1098 - 1100Lauterbach, Margo D.论文数: 0 引用数: 0 h-index: 0机构: Sheppard Pratt Hlth Syst, Neuropsychiat Program Sheppard Pratt, Baltimore, MD 21285 USA Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA Sheppard Pratt Hlth Syst, Neuropsychiat Program Sheppard Pratt, Baltimore, MD 21285 USASchildkrout, Barbara论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Psychiat, Beth Israel Deaconess Med Ctr, Boston, MA USA Sheppard Pratt Hlth Syst, Neuropsychiat Program Sheppard Pratt, Baltimore, MD 21285 USABenjamin, Sheldon论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Sch Med, Dept Psychiat, Worcester, MA 01655 USA Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA USA Sheppard Pratt Hlth Syst, Neuropsychiat Program Sheppard Pratt, Baltimore, MD 21285 USAGregory, Michael D.论文数: 0 引用数: 0 h-index: 0机构: NIMH, Sect Integrat Neuroimaging, Clin & Translat Neurosci Branch, NIH, Bethesda, MD 20892 USA Sheppard Pratt Hlth Syst, Neuropsychiat Program Sheppard Pratt, Baltimore, MD 21285 USA
- [7] Advancing diagnosis and research for rare genetic diseases in Indigenous peoples[J]. Nature Genetics, 2024, 56 : 189 - 193Gareth Baynam论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthDaria Julkowska论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthSarah Bowdin论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthAzure Hermes论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthChristopher R. McMaster论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthElissa Prichep论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthÉtienne Richer论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthFrancois H. van der Westhuizen论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthGabriela M. Repetto论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthHelen Malherbe论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthJuergen K. V. Reichardt论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthLaura Arbour论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthMaui Hudson论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthKelly du Plessis论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthMelissa Haendel论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthPhillip Wilcox论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthSally Ann Lynch论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthShamir Rind论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthSimon Easteal论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthXavier Estivill论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthNadine Caron论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthMeck Chongo论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthYarlalu Thomas论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthMary Catherine V. Letinturier论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of HealthBarend Christiaan Vorster论文数: 0 引用数: 0 h-index: 0机构: Government of Western Australia,Rare Care Centre and Genetic Services of Western Australia, Department of Health
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- [9] Use of Zebrafish Models to Boost Research in Rare Genetic Diseases[J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (24)Crouzier, Lucie论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, France Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, FranceRichard, Elodie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, France Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, FranceSourbron, Jo论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp KU Leuven, Dept Dev & Regenerat, Sect Pediat Neurol, B-3000 Leuven, Belgium Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, FranceLagae, Lieven论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp KU Leuven, Dept Dev & Regenerat, Sect Pediat Neurol, B-3000 Leuven, Belgium Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, FranceMaurice, Tangui论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, France Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, FranceDelprat, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, France Univ Montpellier, MMDN, EPHE, INSERM, F-34095 Montpellier, France
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