학술논문


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'학술논문' 에서 검색결과 96,035건 | 목록 1~20
Reference
Oxford Art Online, 2003
Report
National Ataxia FoundationInternational WAGR Syndrome Association4p- Support GroupML4 FoundationCornelia de Lange Syndrome FoundationStickler Involved PeopleKawasaki Disease FoundationKlippel-Feil Syndrome AllianceKlippel-Feil Syndrome FreedomHyperacusis Research LimitedHypersomnia FoundationKabuki Syndrome NetworkKleine-Levin Syndrome FoundationLeiomyosarcoma Direct Research FoundationMarinesco-Sjogren Syndrome Support Group - NORDMucolipidosis Type IV (ML4) FoundationPeople with Narcolepsy 4 People with Narcolepsy (PWN4PWN)Soft Bones IncorporatedAmerican Multiple Endocrine Neoplasia SupportAtypical Hemolytic Uremic Syndrome FoundationAll Things KabukiWiedemann-Steiner Syndrome FoundationBreast Implant Victim AdvocatesPROS FoundationAmerican Behcet's Disease AssociationAlstrom United KingdomAthymiaCuring Retinal Blindness FoundationHSAN1E Society1p36 Deletion Support and AwarenessThe Alagille Syndrome AllianceAutoinflammatory AllianceBeyond Batten Disease FoundationBohring-Opitz Syndrome Foundation, INCCockayne Syndrome Network (Share and Care)CRMO FoundationCure VCP Disease,INCFOD SupportCystinosis Research FoundationGlobal DARE FoundationHypnic Jerk-Sleep Myoclonus Support GroupJansen's FoundationKCNMA1 Channelopathy International Advocacy FoundationKawasaki Disease Foundation AustraliaLife with LEMS FoundationLowe Syndrome AssociationThe Malan Syndrome FoundationMaple Syrup Urine Disease Family Support GroupInternational Association for Muscle Glycogen Storage Disease (IamGSD)Myhre Syndrome FoundationDNM1 FamiliesNicolaides Baraitser Syndrome (NCBRS) Worldwide FoundationThe PBCers OrganizationPitt Hopkins Research FoundationRecurrent Meningitis AssociationRecurrent Respiratory Papillomatosis FoundationRemember the GirlsSmith-Kingsmore Syndrome FoundationSPG Research FoundationTeam TelomereTransient Global Amnesia ProjectThe Charlotte & Gwenyth Gray FoundationThe Cute Syndrome FoundationThe Maddi FoundationWhite Sutton Syndrome FoundationZmynd11 Gene DisorderCauda Equina Foundation, IncTango2 Research FoundationNoah's Hope - Hope4Bridget FoundationProject SebastianSMC1A Epilepsy FoundationInternational Foundation for Gastrointestinal DisordersEndosalpingiosis Foundation, IncInternational Sacral Agenesis/Caudal Regression Association (ISACRA)Scheuermann's Disease FundBatten Disease Support and Research AssociationKennedy's Disease AssociationCure Mito FoundationWarburg Micro Research FoundationCure MucolipidosisRiaan Research InitiativeCureARS A NJ Nonprofit CorporationCACNA1H AllianceIMBS AllianceSHINE-Syndrome FoundaionNon- Ketotic Hyperglycinemia (NKH) CrusadersHypertrophic Olivary Degeneration Association (HODA)National Organization for Disorders of the Corpus Callosum (NODCC)Team4TravisTaylor's Tale FoundationLambert Eaton (LEMS) Family AssociationBARE IncSTAG1 Gene FoundationCoffin Lowry Syndrome FoundationBLFS IncorporateAniridia North AmericaCure Blau Syndrome FoundationARG1D FoundationCURE HSPB8 MyopathyInternational Society of Mannosidosis and Related DisordersTBX4LifeCure DHDDSMANDKind FoundationKrishnan Family FoundationSPATA FoundationAcrodysostosis Support and ResearchACTA2 AllianceANA-Aniridia North AmericaCRELD1 WarriorsGNB1 Advocacy GroupHope for PDCD FoundationISMRD - Beta MannosidosisKBG Syndrome AssociationThe LCC FoundationMLD FoundationMSA United Research ConsortiumMoyamoya FoundationOPMD AssociationSKDEAS FoundationThe Foundation for Casey's CureTUBB3 FoundationWWOX Foundation
Coordination of Rare Diseases at Sanford
Academic Journal
Sew WQG; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Molano-Fernández M; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Li Z; Centre for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Lange A; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Pérez de Ciriza N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Rasmussen LJ; Centre for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Herranz H; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE
Academic Journal
Bohg C; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Dubanych Y; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Czech Republic.; Kosteletos S; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Xiao T; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Neuenschwander M; Core Facility Screening Unit, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Research Unit Structural Chemistry & Computational Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Lisurek M; Research Unit Structural Chemistry & Computational Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Öster C; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Oder A; Core Facility Screening Unit, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Seyffarth C; Core Facility Screening Unit, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bach K; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Leone DG; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Filandr F; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Wegert M; Research Unit Biomolecule Modification and Delivery, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Lange S; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sawczyc H; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; von Kries JP; Core Facility Screening Unit, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Hackenberger CPR; Research Unit Biomolecule Modification and Delivery, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Institute of Chemistry, Humboldt-Universität zu Berlin, Berlin, Germany.; Specker E; Core Facility Compound Management, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sun H; Research Unit Structural Chemistry & Computational Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Institute of Chemistry, Technische Universität Berlin, Berlin, Germany.; Stříšovský K; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Lange A; Research Unit Molecular Biophysics, Leibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Institute of Biology, Humboldt-Universität zu Berlin, Berlin, Germany.
Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 0370543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-3773 (Electronic) Linking ISSN: 14337851 NLM ISO Abbreviation: Angew Chem Int Ed Engl Subsets: MEDLINE
Report
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Boemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T; BabyDetect Expert Panel; Servais L. Population-based, first-tier genomic newborn screening in the maternity ward. Nat Med. 2025 Apr;31(4):1339-1350. doi: 10.1038/s41591-024-03465-x. Epub 2025 Jan 28.
Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926.
Report
Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
Finkel, Mercuri, Darras, Kuntz, Kirschner et al, 2017
Birnkrant, et al, 2018
Winarni, Schneider, Borodyanskara, & Hagerman, 2012
Bailey, Raspa, Bishop & Holiday, 2009
Gehtland LM, Paquin RS, Andrews SM, Lee AM, Gwaltney A, Duparc M, Pfaff ER, Bailey DB Jr. Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR Pediatr Parent. 2022 Feb 10;5(1):e30941. doi: 10.2196/30941.
Bailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.
Academic Journal
Held NR; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Bauer T; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Stirnberg R; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Recke TV; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Lehnen NC; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.; Baumgartner T; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Witt JA; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Rácz A; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Pukropski J; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Walger L; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; von Wrede R; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Badr M; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Wolf D; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Kersting LN; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Lange A; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany; Institute for Computer Science, University of Bonn, Bonn, Germany.; Bisten J; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany; Institute for Computer Science, University of Bonn, Bonn, Germany.; Schmidt M; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Pracht E; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Löwen D; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Faber J; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Helmstaedter C; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Reuter M; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; A.A. Martinos Centre for Biomedical Imaging, Massachusetts General Hospital, Boston, MA, United States; Department of Radiology, Harvard Medical School, Boston, MA, United States.; Friedman A; Department of Brain and Cognitive Sciences, The School of Brain Sciences and Cognition, Zlotowski Centre for Neuroscience, Ben-Gurion University of the Negev, Beer-Sheva, Israel; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel; Department of Medical Neuroscience, Dalhousie University, Halifax, Canada.; Radbruch A; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Medical Data Usability and Translation, University of Bonn, Bonn, Germany.; Surges R; Department of Epileptology, University Hospital Bonn, Bonn, Germany.; Stöcker T; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; Department of Physics and Astronomy, University of Bonn, Bonn, Germany.; Rüber T; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany; Department of Epileptology, University Hospital Bonn, Bonn, Germany; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Medical Data Usability and Translation, University of Bonn, Bonn, Germany. Electronic address: theodor.rueber@ukbonn.de.
Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
eBook
Forging Freedom in W. E. B. Du Bois's Twilight Years: No Deed but Memory, 2023, ill.
Academic Journal
Lange A; Department of Dermatology, AniCura Kleintierspezialisten Augsburg GmbH, Augsburg, Germany.; Mayer U; Department of Dermatology, AniCura Kleintierspezialisten Augsburg GmbH, Augsburg, Germany.; Bensignor E; Dermatology Referral Service, Clinique Vétérinaire, Rennes-Cesson, France.; Cornegliani L; Clinica Veterinaria S. Siro - Anicura, Milan, Italy.; Ferreira D; Dermatologia Veterinaria, Lisbon, Portugal.; Matricoti I; Servizi Dermatologici Veterinari, Bologna, Italy.; Mosca M; VetAgro Sup, Interactions Cells Environment, Université de Lyon, Marcy l'Etoile, France.; Ordeix L; Fundació Hospital Clínic Veterinari and Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain.; Pin D; VetAgro Sup, Interactions Cells Environment, Université de Lyon, Marcy l'Etoile, France.; Scarampella F; Studio Dermatologico Veterinario, Milan, Italy.; Videmont E; Centre Hospitalier Vétérinaire, Saint-Martin Fillière, France.; Yu A; Guelph Veterinary Specialty Hospital, Guelph, Ontario, Canada.; Fantini O; Vetoquinol SA, Paris, France.
Publisher: Blackwell Science Country of Publication: England NLM ID: 9426187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-3164 (Electronic) Linking ISSN: 09594493 NLM ISO Abbreviation: Vet Dermatol Subsets: MEDLINE
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제한된 항목
[검색어] Lange, A. E.
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