학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 367건 | 목록 1~10
Academic Journal
O'Donnell-Luria, AHPais, LSFaundes, VWood, JCSveden, ALuria, VAbou Jamra, RAccogli, AAmburgey, KAnderlid, BMAzzarello-Burri, SBasinger, AABianchini, CBird, LMBuchert, RCarre, WCeulemans, SCharles, PCox, HCulliton, LCurro, ADemurger, FDowling, JJDuban-Bedu, BDubourg, CEiset, SEEscobar, LFFerrarini, AHaack, TBHashim, MHeide, SHelbig, KLHelbig, IHeredia, RHeron, DIsidor, BJonasson, ARJoset, PKeren, BKok, FKroes, HYLavillaureix, ALu, XMaas, SMMaegawa, GHBMarcelis, CLMMark, PRMasruha, MRMcLaughlin, HMMcWalter, KMelchinger, EUMercimek-Andrews, SNava, CPendziwiat, MPerson, RRamelli, GPRamos, LLPRauch, AReavey, CRenieri, ARiess, ASanchez-Valle, ASattar, SSaunders, CSchwarz, NSmol, TSrour, MSteindl, KSyrbe, STaylor, JCTelegrafi, AThiffault, ITrauner, DAvan der Linden, Hvan Koningsbruggen, SVillard, LVogel, IVogt, JWeber, YGWentzensen, IMWidjaja, EZak, JBaxter, SBanka, SRodan, LHMcrae, JFClayton, SFitzgerald, TWKaplanis, JPrigmore, ERajan, DSifrim, AAitken, SAkawi, NAlvi, MAmbridge, KBarrett, DMBayzetinova, TJones, PJones, WDKing, DKrishnappa, NMason, LESingh, TTivey, ARAhmed, MAnjum, UArcher, HArmstrong, RAwada, JBalasubramanian, MBaralle, DBarnicoat, ABatstone, PBaty, DBennett, CBerg, JBernhard, BBevan, APBitner-Glindzicz, MBlair, EBlyth, MBohanna, DBourdon, LBourn, DBradley, LBrady, ABrent, SBrewer, CBrunstrom, KBunyan, DJBurn, JCanham, NCastle, BChandler, KChatzimichali, ECilliers, DClarke, AClasper, SClayton-Smith, JClowes, VCoates, ACole, TColgiu, ICollins, ACollinson, MNConnell, FCooper, NCresswell, LCross, GCrow, YD'Alessandro, MDabir, TDavidson, RDavies, Sde Vries, DDean, JDeshpande, CDevlin, GDixit, ADobbie, ADonaldson, ADonnai, DDonnelly, DDonnelly, CDouglas, ADouzgou, SDuncan, AEason, JEllard, SEllis, IElmslie, FEvans, KEverest, SFendick, TFisher, RFlinter, FFoulds, NFry, AFryer, AGardiner, CGaunt, LGhali, NGibbons, RGill, HGoodship, JGoudie, DGray, EGreen, AGreene, PGreenhalgh, LGribble, SHarrison, RHarrison, LHarrison, VHawkins, RHe, LHellens, SHenderson, AHewitt, SHildyard, LHobson, EHolden, SHolder, MHolder, SHollingsworth, GHomfray, THumphreys, MHurst, JHutton, BIngram, SIrving, MIslam, LJackson, AJarvis, JJenkins, LJohnson, DJones, EJosifova, DJoss, SKaemba, BKazembe, SKelsell, RKerr, BKingston, HKini, UKinning, EKirby, GKirk, CKivuva, EKraus, AKumar, DKumar, VKALachlan, KLam, WLampe, ALangman, CLees, MLim, DLongman, CLowther, GLynch, SAMagee, AMaher, EMale, AMansour, SMarks, KMartin, KMaye, UMcCann, EMcConnell, VMcEntagart, MMcGowan, RMckay, KMckee, SMcMullan, DJMcNerlan, SMcWilliam, CMehta, SMetcalfe, KMiddleton, AMiedzybrodzka, ZMiles, EMohammed, SMontgomery, TMoore, DMorgan, SMorton, JMugalaasi, HMurday, VMurphy, HNaik, SNemeth, ANevitt, LNewbury-Ecob, RNorman, AO'Shea, ROgilvie, COng, KRPark, SMParker, MJPatel, CPaterson, JPayne, SPerrett, DPhipps, JPilz, DTPollard, MPottinger, CPoulton, JPratt, NPrescott, KPrice, SPridham, AProcter, APurnell, HQuarrell, ORagge, NRahbari, RRandall, JRankin, JRaymond, LRice, DRobert, LRoberts, ERoberts, JRoberts, PRoberts, GRoss, ARosser, ESaggar, ASamant, SSampson, JSandford, RSarkar, ASchweiger, SScott, RScurr, ISelby, ASeller, ASequeira, CShannon, NSharif, SShaw-Smith, CShearing, EShears, DSheridan, ESimonic, ISingzon, RSkitt, ZSmith, ASmith, KSmithson, SSneddon, LSplitt, MSquires, MStewart, FStewart, HStraub, VSuri, MSutton, VSwaminathan, GJSweeney, ETatton-Brown, KTaylor, CTaylor, RTein, MTemple, IKThomson, JTischkowitz, MTomkins, STorokwa, ATreacy, BTurner, CTurnpenny, PTysoe, CVandersteen, AVarghese, VVasudevan, PVijayarangakannan, PWakeling, EWallwark, SWaters, JWeber, AWellesley, DWhiteford, MWidaa, SWilcox, SWilkinson, EWilliams, DWilliams, NWilson, LWoods, GWragg, CWright, MYates, LYau, MNellaker, CParker, MFirth, HVWright, CFFitzPatrick, DRBarrett, JCHurles, ME
American journal of human genetics. 104(6):1210-1222
Academic Journal
Adams DR; National Human Genome Research Institute, National Institutes of Health, USA. Electronic address: david.adams@nih.gov.; Dm van Karnebeek C; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-enterology Endocrinology Metabolism, Amsterdam University Medical Centers, The Netherlands.; Agullo SB; Centre Nacional d'Anàlisi Genòmica (CNAG), Spain; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Spain.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Chile.; Jamuar SS; Genetics Service, KK Women's and Children's Hospital and Paediatrics ACP, Duke-NUS Medical School, Singapore; Singhealth Duke-NUS Institute of Precision Medicine, Singapore.; Lynch SA; Children's Health Ireland, Ireland.; Pintos-Morell G; Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital, Spain; MPS-Spain Patient Advocacy Organization, Spain.; Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India.; Shai R; Pediatric Cancer Molecular Lab, Sheba Medical Center, Israel.; Steward CA; Genomics England, United Kingdom.; Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Lithuania.; Verloes A; Département de Génétique, CHU Paris - Hôpital Robert Debré, France.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Academic Journal
Krall P; Instituto de Medicina, Facultad de Medicina, Universidad Austral de Chile, Valdivia, Chile. paola.krall@uchile.cl.; Departamento de Pediatría y Cirugía Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile. paola.krall@uchile.cl.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.; Gálvez C; Departamento de Pediatría y Cirugía Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile.; Departamento de Pediatría, Clínica Alemana de Santiago, Santiago, Chile.; Cavagnaro F; Departamento de Pediatría, Clínica Alemana de Santiago, Santiago, Chile.; Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE
Academic Journal
Faundes V; Universidad de Chile, Instituto de Nutrición y Tecnología de los Alimentos, Laboratorio de Genética y Enfermedades Metabólicas, Santiago, Chile.; Repetto GM; Universidad del Desarrollo, Facultad de Medicina, Instituto de Ciencias e Innovación en Medicina, Centro de Genética y Genómica, Programa de Enfermedades Raras, Santiago, Chile.; Valdivia LE; Universidad Mayor, Facultad de Ciencias, Centro de Biología Integrativa, Santiago, Chile.; Universidad Mayor, Facultad de Ciencias, Escuela de Biotecnología, Santiago, Chile.
Publisher: Sociedade Brasileira de Genética Country of Publication: Brazil NLM ID: 100883590 Publication Model: eCollection Cited Medium: Print ISSN: 1415-4757 (Print) Linking ISSN: 14154757 NLM ISO Abbreviation: Genet Mol Biol Subsets: PubMed not MEDLINE
Academic Journal
Poli MC; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Hospital Dr. Roberto del Río, Santiago, Chile.; Rebolledo-Jaramillo B; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Lagos C; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Orellana J; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Moreno G; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Martín LM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile.; Encina G; Biosoluciones UDD, Santiago, Chile.; Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Biosoluciones UDD, Santiago, Chile.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.; Zavala MJ; Hospital Base de Valdivia, Valdivia, Chile.; Hasbún T; Department of Dermatology, Facultad de Medicina Universidad del Desarrollo, Clínica Alemana de Santiago, Vitacura, Chile.; Department of Dermatology, Hospital Exequiel González Cortés, Vitacura, Chile.; Fischer S; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Brito F; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Araya D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Lira M; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; de la Cruz J; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Astudillo C; Hospital Dr. Roberto del Río, Santiago, Chile.; Lay-Son G; Division of Pediatrics, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.; Cares C; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile.; Aracena M; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile.; Martin ES; Hospital Dr Guillermo Grant Benavente, Concepcion, Chile.; Coban-Akdemir Z; University of Texas Health Science Center at Houston, School of Public Health, Department of Epidemiology, Human Genetics and Environmental Sciences, Santiago, Chile.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile. grepetto@udd.cl.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile. grepetto@udd.cl.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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