학술논문


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'학술논문' 에서 검색결과 29건 | 목록 1~20
Academic Journal
Olav M. AndersenMatthijs W. J. de WaalGiulia MontiNiccolo TesiAnne Mette G. JensenChrista de GeusRosalina van SpaendonkMaartje VogelShahzad AhmadNajaf AminPhilippe AmouyelGary W. BeechamCéline BellenguezClaudine BerrJoshua C. BisAnne BolandPaola BossùFemke BouwmanJose BrasCamille CharbonnierJordi ClarimonCarlos CruchagaAntonio DanieleJean-François DartiguesStéphanie DebetteJean-François DeleuzeNicola DenningAnita L. DeStefanoOriol Dols-IcardoCornelia M. van DuijnLindsay A. FarrerMaria Victoria FernándezWiesje M. van der FlierNick C. FoxDaniela GalimbertiEmmanuelle GeninJohan J. P. GilleBenjamin Grenier-BoleyDetelina GrozevaYann Le GuenRita GuerreiroJonathan L. HainesClive HolmesHolger HummerichM. Arfan IkramM. Kamran IkramAmit KawaliaRobert KraaijJean-Charles LambertMarc LathropAfina W. LemstraAlberto LleóRichard M. MyersMarcel M. A. M. MannensRachel MarshallEden R. MartinCarlo MasulloRichard MayeuxSimon MeadPatrizia MecocciAlun MeggyMerel O. MolBenedetta NacmiasAdam C. NajValerio NapolioniJ. Nicholas CochranGaël NicolasFlorence PasquierPau PastorMargaret A. Pericak-VanceYolande A. L. PijnenburgFabrizio PirasOlivier QuenezAlfredo RamirezRachel RaybouldRichard RedonMarcel J. T. ReindersAnne-Claire RichardSteffi G. Riedel-HellerFernando RivadeneiraJeroen G. J. van RooijStéphane RousseauNatalie S. RyanPascual Sanchez-JuanGerard D. SchellenbergPhilip ScheltensJonathan M. SchottSudha SeshadriDaoud SieRebecca SimsErik A. SistermansSandro SorbiJohn C. van SwietenBetty TijmsAndré G. UitterlindenPieter Jelle VisserMichael WagnerDavid WallonLi-San WangJulie WilliamsJennifer S. YokoyamaAline ZareaSven J. van der LeeJohan G. OlsenMarc HulsmanHenne Holstege
Molecular Neurodegeneration, Vol 20, Iss 1, Pp 1-21 (2025)
Academic Journal
Olivier QuenezCatherine SchrammKévin CassinariAude NicolasJoan GroeneveldGuillaume HuguetBenjamin Grenier-BoleyMarc HulsmanAnne-Claire RichardStéphane RousseauShahzad AhmadNajaf AminPhilippe AmouyelOlivia BelbinCéline BellenguezClaudine BerrAnne BolandPaola BossùFemke BouwmanJose BrasJordi ClarimonAntonio DanieleJean-François DartiguesStéphanie DebetteJean-François DeleuzeNicola DenningOriol Dols-IcardoCornelia M. van DuijnVictoria FernandezWiesje M. van der FlierJuan ForteaNick C. FoxRuth Frikke-SchmidtDaniela GalimbertiEmmanuelle GeninRoberta GhidoniVilmantas GiedraitisJohan J. P. GilleDetelina GrozevaRita GuerreiroEdna GrünblattJohn HardySteffi G. Riedel-HellerMikko HiltunenClive HolmesHenne HolstegeJakub HortHolger HummerichM. Arfan IkramM. Kamran IkramMartin IngelssonIris E. JansenAmit KawaliaRobert KraaijPatrick G. KehoeMarc LathropMorgane LacourAfina W. LemstraAlberto LleóLauren LuckcuckMarcel M. A. M. MannensRachel MarshallCarlo MasulloSimon MeadPatrizia MecocciAlexandre de MendonçaAlun MeggyShima MehrabianMerel O. MolKevin MorganAlexandre MorinBenedetta NacmiasPenny J. NorsworthyFlorence PasquierPau PastorFabrizio PirasJulius PoppAlfredo RamirezRachel RaybouldRichard RedonMarcel J. T. ReindersFernando RivadeneiraJeroen G. J. van RooijNatalie S. RyanSalha SaadPascual Sanchez-JuanNikolaos ScarmeasPhilip ScheltensJonathan M. SchottDavide SeripaDaoud SieRebecca SimsErik A. SistermansSandro SorbiKristel SleegersResie van SpaendonkJohn C. van SwietenNiccolo’ TesiBetty M TijmsAndré G. UitterlindenMagda TsolakiPieter Jelle VisserMichael WagnerJulie WilliamsAline ZareaDavid WallonSébastien JacquemontJean-Charles LambertSven J. van der LeeCamille CharbonnierGaël Nicolas
Academic Journal
Verberne, E A, Lo-A-Njoe, S M, van Ginkel, M, Zwolsman, J, Nikkels, S, Clement, L, de Vroomen, M, Wever, M L G, Arends, E, Holtsema, H, Hajenius, P J, Moreta, D, Ecury-Goossen, G M, Mannens, M M A M, de Walle, H E K, Bergman, J E H & van Haelst, M M 2023, 'Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao', Birth defects research, vol. 115, no. 6, pp. 595-604. https://doi.org/10.1002/bdr2.2153, https://doi.org/10.1002/bdr2.2153
Academic Journal
Jansen, P R, Vos, N, van Uhm, J, Dekkers, I A, van der Meer, R, Mannens, M M A M & van Haelst, M M 2024, 'The utility of obesity polygenic risk scores from research to clinical practice : A review', Obesity Reviews, vol. 25, no. 11, e13810. https://doi.org/10.1111/obr.13810
Academic Journal
Henne HolstegeMarc HulsmanCamille CharbonnierBenjamin Grenier-BoleyOlivier QuenezDetelina GrozevaJeroen G. J. van RooijRebecca SimsShahzad AhmadNajaf AminPenny J. NorsworthyOriol Dols-IcardoHolger HummerichAmit KawaliaPhilippe AmouyelGary W. BeechamClaudine BerrJoshua C. BisAnne BolandPaola BossùFemke BouwmanJose BrasDominique CampionJ. Nicholas CochranAntonio DanieleJean-François DartiguesStéphanie DebetteJean-François DeleuzeNicola DenningAnita L. DeStefanoLindsay A. FarrerMaria Victoria FernándezNick C. FoxDaniela GalimbertiEmmanuelle GeninJohan J. P. GilleYann Le GuenRita GuerreiroJonathan L. HainesClive HolmesM. Arfan IkramM. Kamran IkramIris E. JansenRobert KraaijMarc LathropAfina W. LemstraAlberto LleóLauren LuckcuckMarcel M. A. M. MannensRachel MarshallEden R. MartinCarlo MasulloRichard MayeuxPatrizia MecocciAlun MeggyMerel O. MolKevin MorganRichard M. MyersBenedetta NacmiasAdam C. NajValerio NapolioniFlorence PasquierPau PastorMargaret A. Pericak-VanceRachel RaybouldRichard RedonMarcel J. T. ReindersAnne-Claire RichardSteffi G. Riedel-HellerFernando RivadeneiraStéphane RousseauNatalie S. RyanSalha SaadPascual Sanchez-JuanGerard D. SchellenbergPhilip ScheltensJonathan M. SchottDavide SeripaSudha SeshadriDaoud SieErik A. SistermansSandro SorbiResie van SpaendonkGianfranco SpallettaNiccolo’ TesiBetty TijmsAndré G. UitterlindenSven J. van der LeePieter Jelle VisserMichael WagnerDavid WallonLi-San WangAline ZareaJordi ClarimonJohn C. van SwietenMichael D. GreiciusJennifer S. YokoyamaCarlos CruchagaJohn HardyAlfredo RamirezSimon MeadWiesje M. van der FlierCornelia M. van DuijnJulie WilliamsGaël NicolasCéline BellenguezJean-Charles Lambert
Nat Genet
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C L & Lambert, J-C 2022, 'Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease', Nature Genetics, vol. 54, no. 12, pp. 1786-1794. https://doi.org/10.1038/s41588-022-01208-7
Nature genetics 54(12), 1786-1794 (2022). doi:10.1038/s41588-022-01208-7
Nature Genetics, vol 54, iss 12
Academic Journal
Am J Med Genet A
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, 'Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791. https://doi.org/10.1002/ajmg.a.62708
Academic Journal
Henne HolstegeMatthijs W. J. de WaalNiccolo’ TesiSven J. van der LeeChrista de GeusRosalina van SpaendonkMaartje VogelShahzad AhmadNajaf AminPhilippe AmouyelGary W. BeechamCéline BellenguezClaudine BerrJoshua C. BisAnne BolandPaola BossùFemke BouwmanJose BrasCamille CharbonnierJordi ClarimonCarlos CruchagaAntonio DanieleJean-François DartiguesStéphanie DebetteJean-François DeleuzeNicola DenningAnita L. DeStefanoOriol Dols-IcardoCornelia M. van DuijnLindsay A. FarrerMaria Victoria FernándezWiesje M. van der FlierNick C. FoxDaniela GalimbertiEmmanuelle GeninJohan J.P. GilleBenjamin Grenier-BoleyDetelina GrozevaYann Le GuenRita GuerreiroJonathan L. HainesClive HolmesHolger HummerichM. Arfan IkramM. Kamran IkramAmit KawaliaRobert KraaijJean-Charles LambertMarc LathropAfina W. LemstraAlberto LleóRichard M. MyersMarcel M. A. M. MannensRachel MarshallEden R. MartinCarlo MasulloRichard MayeuxSimon MeadPatrizia MecocciAlun MeggyMerel O. MolBenedetta NacmiasAdam C. NajValerio NapolioniJ. Nicholas CochranGaël NicolasFlorence PasquierPau PastorMargaret A. Pericak-VanceYolande A. L. PijnenburgFabrizio PirasOlivier QuenezAlfredo RamirezRachel RaybouldRichard RedonMarcel J.T. ReindersAnne-Claire RichardSteffi G Riedel-HellerFernando RivadeneiraJeroen G. J. van RooijStéphane RousseauNatalie S. RyanPascual Sanchez-JuanGerard D. SchellenbergPhilip ScheltensJonathan M. SchottSudha SeshadriDaoud SieRebecca SimsErik A. SistermansSandro SorbiJohn C. van SwietenBetty TijmsAndré G. UitterlindenPieter Jelle VisserMichael WagnerDavid WallonLi-San WangJulie WilliamsJennifer S. YokoyamaAline ZareaMarc HulsmanOlav M. Andersen
Academic Journal
J Community Genet
Verberne, E A, Ecury-Goossen, G M, Manshande, M E, Ponson-Wever, M, de Vroomen, M, Tilanus, M, Mannens, M M A M, Henneman, L & van Haelst, M M 2021, 'Clinical and community genetics services in the Dutch Caribbean', Journal of Community Genetics, vol. 12, no. 3, pp. 497-501. https://doi.org/10.1007/s12687-021-00515-6, https://doi.org/10.1007/s12687-021-00515-6
Academic Journal
Am J Med Genet A
Verberne, E A, Faries, S, Mannens, M M A M, Postma, A V & van Haelst, M M 2020, 'Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency', American Journal of Medical Genetics, Part A, vol. 182, no. 8, pp. 1952-1956. https://doi.org/10.1002/ajmg.a.61632
Academic Journal
Int J Mol Sci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
van der Laan, L, Rooney, K, Haghshenas, S, Silva, A, McConkey, H, Relator, R, Levy, M A, Valenzuela, I, Trujillano, L, Lasa-Aranzasti, A, Campos, B, Castells, N, Verberne, E A, Maas, S, Alders, M, Mannens, M M A M, van Haelst, M M, Sadikovic, B & Henneman, P 2023, 'Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature', International Journal of Molecular Sciences, vol. 24, no. 18, 14240. https://doi.org/10.3390/ijms241814240
Academic Journal
Int J Mol Sci
Krzyzewska, I M, Lauffer, P, Mul, A N, van der Laan, L, Yim, A Y F L, Cobben, J M, Niklinski, J, Chomczyk, M A, Smigiel, R, Mannens, M M A M & Henneman, P 2023, 'Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)', International Journal of Molecular Sciences, vol. 24, no. 7, 6601. https://doi.org/10.3390/ijms24076601
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제한된 항목
[AR] Marcel M. A. M. Mannens
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