학술논문


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'학술논문' 에서 검색결과 22,898건 | 목록 1~20
Academic Journal
Steven LaurieWouter SteyaertElke de BoerKiran PolavarapuNika SchuermansAnna K. SommerGerman DemidovKornelia EllwangerIda ParamonovColine ThomasStefan AretzJonathan BaetsElisa BenettiGemma BullichPatrick F. ChinneryJill Clayton-SmithEnzo CohenDaniel DanisJean-Madeleine de Sainte AgatheAnne-Sophie Denommé-PichonJordi Diaz-ManeraStephanie EfthymiouLaurence FaivreMarcos Fernandez-CallejoMallory FreebergJosé Garcia-PelaezLena Guillot-NoelTobias B. HaackMike HannaHolger HengelRita HorvathHenry HouldenAdam JacksonLennart JohanssonMridul JohariErik-Jan KamsteegMelanie KellnerTjitske KleefstraDidier LacombeHanns LochmüllerEstrella López-MartínAlfons MacayaAnna Marcé-GrauAleš MaverHeba MorsyFrancesco MuntoniFrancesco MusacchiaIsabelle NelsonVincenzo NigroCatarina OlimpioCarla OliveiraJaroslava Paulasová SchwabováMartje G. PaulyBorut PeterlinSophia PetersRolph PfundtGiulio PilusoDavide PisciaManuel PosadaSelina ReichAlessandra RenieriLukas RybaKarolis ŠablauskasMarco SavareseLudger SchölsLeon SchützVerena Steinke-LangeGiovanni StevaninVolker StraubMarc SturmMorris A. SwertzMarco TartagliaIris B. A. W. te PaskeRachel ThompsonAnnalaura TorellaChristina TrainorBjarne UddLiedewei Van de VondelBart van de WarrenburgJeroen van ReeuwijkJana VandrovcovaAntonio VitobelloJanet VosEmílie VyhnálkováRobin WijngaardCarlo WilkeDoreen WilliamJishu XuBurcu YaldizLuca ZalatnaiBirte ZurekRicharda M. de VoerLisenka E. L. M. VissersAnthony J. BrookesTeresinha EvangelistaChristian GilissenHolm GraessnerNicoline HoogerbruggeStephan OssowskiOlaf RiessRebecca SchüleMatthis SynofzikAlain VerloesLeslie MatalongaHan G. BrunnerKatja LohmannAna TöpfLisenka E.L.M. VissersSergi BeltranAlexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Steven LaurieWouter SteyaertElke de BoerKiran PolavarapuNika SchuermansAnna K. SommerGerman DemidovKornelia EllwangerIda ParamonovColine ThomasStefan AretzJonathan BaetsElisa BenettiGemma BullichPatrick F. ChinneryJill Clayton-SmithEnzo CohenDaniel DanisJean-Madeleine de Sainte AgatheAnne-Sophie Denommé-PichonJordi Diaz-ManeraStephanie EfthymiouLaurence FaivreMarcos Fernandez-CallejoMallory FreebergJosé Garcia-PelaezLena Guillot-NoelTobias B. HaackMike HannaHolger HengelRita HorvathHenry HouldenAdam JacksonLennart JohanssonMridul JohariErik-Jan KamsteegMelanie KellnerTjitske KleefstraDidier LacombeHanns LochmüllerEstrella López-MartínAlfons MacayaAnna Marcé-GrauAleš MaverHeba MorsyFrancesco MuntoniFrancesco MusacchiaIsabelle NelsonVincenzo NigroCatarina OlimpioCarla OliveiraJaroslava Paulasová SchwabováMartje G. PaulyBorut PeterlinSophia PetersRolph PfundtGiulio PilusoDavide PisciaManuel PosadaSelina ReichAlessandra RenieriLukas RybaKarolis ŠablauskasMarco SavareseLudger SchölsLeon SchützVerena Steinke-LangeGiovanni StevaninVolker StraubMarc SturmMorris A. SwertzMarco TartagliaIris B. A. W. te PaskeRachel ThompsonAnnalaura TorellaChristina TrainorBjarne UddLiedewei Van de VondelBart van de WarrenburgJeroen van ReeuwijkJana VandrovcovaAntonio VitobelloJanet VosEmílie VyhnálkováRobin WijngaardCarlo WilkeDoreen WilliamJishu XuBurcu YaldizLuca ZalatnaiBirte ZurekRicharda M. de VoerNicoline HoogerbruggeOlaf RiessAlain VerloesLisenka E.L.M. VissersTeresinha EvangelistaAna TöpfHolm GraessnerKatja LohmannRebecca SchüleMatthis SynofzikSergi BeltranChristian GilissenAnthony J. BrookesHan G. BrunnerAlexander HoischenLeslie MatalongaStephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Yong G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yazhou W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yuran D; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Kai Z; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Han Y; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Zipeng L; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Jianmin C; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Feng G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Chunhua X; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Wentao G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Junli W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Kuirong J; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yi M; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China. miaoyi@njmu.edu.cn.; Jishu W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China. weijishu@njmu.edu.cn.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9808285 Publication Model: Electronic Cited Medium: Internet ISSN: 1435-2451 (Electronic) Linking ISSN: 14352443 NLM ISO Abbreviation: Langenbecks Arch Surg Subsets: MEDLINE
Academic Journal
Johansson LennartLaurie SteveSpalding DylanGibson SpencerRuvolo DavidThomas ColinePiscia Davidede Andrade FernandaBeen GeriekeBijlsma MariekeBrunner HanCimerman SandiDizjikan Farid YavariEllwanger KorneliaFernandez MarcosFreeberg Malloryvan de Geijn Gert-JanKanninga RoanMaddi VatsalyaMehtarizadeh MehdiNeerincx PieterOssowski StephanRath AnaRoelofs-Prins DieuwkeStok-Benjamins Marloesvan der Velde K JoeriVeal Colinvan der Vries GerbenWadsley MarcWarren GregoryZurek BirteKeane ThomasGraessner HolmBeltran SergSwertz Morris ABrookes AnthonyRiess OlafHaack TobiasDemidov GermanSturm MarcSchulze-Hentrich Julia MSchüle RebeccaXu JishuKessler ChristophKellner MelanieSynofzik MatthisWilke CarloTraschütz AndreasSchöls LudgerHengel HolgerLerche HolgerKegele JosuaHeutink PeterScheffer HansHoogerbrugge NicolineHoischen Alexander't Hoen PeterVissers Lisenka ELMGilissen ChristianSteyaert WouterSablauskas Karolisde Voer Richarda MKamsteeg Erik-Janvan de Warrenburg Bartvan Os Nienkete Paske IrisJanssen Erikde Boer ElkeSteehouwer MarloesYaldiz BurcuKleefstra TjitskeBrookes Anthony JRiaz UmarWarren GregShorter ThomasTöpf AnaStraub VolkerBettolo Chiara MariniManera Jordi DiazHambleton SophieEngelhardt KarinClayton-Smith JillBanka SiddharthAlexander ElizabethJackson AdamFaivre LaurenceThauvin ChristelVitobello AntonioDenommé-Pichon Anne-SophieDuffourd YannisBruel Ange-LinePeyron ChristinePélissier AuroreBeltran SergiGut Ivo GlynneLaurie StevenMatalonga LesliePapakonstantinou AnastasiosBullich GemmaCorvo AlbertoFernandez-Callejo MarcosHernández CarlesPicó DanielParamonov IdaLochmüller HannsGumus GulcinBros-Facer VirginieHanauer MarcLagorce DavidHongnat OscarChahdil MarouaLebreton EmelineStevanin GiovanniDurr AlexandraDavoine Claire-SophieGuillot-Noel LénaHeinzmann AnnaCoarelli GiuliaBonne GisèleEvangelista TeresinhaAllamand ValérieNelson IsabelleYaou Rabah BenMetay CorinneEymard BrunoCohen EnzoAtalaia AntonioStojkovic TanyaMacek MilanTurnovec MarekThomasová DanaKremliková Radka PourováFranková VeraHavlovicová MarkétaLišková PetraDoležalová PavlaParkinson HelenRobinson PeterDanis DanielRobert GlennCosta AlessiaPatch ChristineHanna MikeHoulden HenryReilly MaryVandrovcova JanaEfthymiou StephanieMorsy HebaCali ElisaMagrinelli FrancescaSisodiya Sanjay MRohrer JonathanMuntoni FrancescoZaharieva IrinaSarkozy AnnaTimmerman VincentBaets Jonathande Vries GeertDe Winter JonathanBeijer Daniquede Jonghe PeterVan de Vondel LiedeweiDe Ridder WillemWeckhuysen SarahNigro VincenzoMutarelli MargheritaMorleo ManuelaPinelli MicheleVaravallo AlessandraBanfi SandroTorella AnnalauraMusacchia FrancescoPiluso GiulioFerlini AlessandraSelvatici RitaGualandi FrancescaBigoni StefaniaRossi RacheleNeri MarcellaAretz StefanSpier IsabelSommer Anna KatharinaPeters SophiaOliveira CarlaGarcia-Pelaez JoseBarbosa-Matos RitaJosé Celina SãoFerreira MartaGullo IreneFernandes SusanaGarrido LuziaFerreira PedroCarneiro Fátimavan der Velde Joeri KNeerincx Pieter BAbbott Kristin MFrederikse Wilhemina S KerstjensZonneveld-Huijssoon Evelinevan Gijn MarielleKöhler SebastianMetcalfe AlisonVerloes AlainDrunat SéverineHeron DelphineMignot CyrilKeren Borisde Sainte Agathe Jean-MadeleineRooryck CarolineLacombe DidierTrimouille AurelienDe la Paz Manuel PosadaSánchez Eva BermejoMartín Estrella LópezDelgado Beatriz Martínezde la Rosa F Javier Alonso GarcíaCiolfi AndreaDallapiccola BrunoPizzi SimoneRadio Francesca ClementinaTartaglia MarcoRenieri AlessandraFurini SimoneFallerini ChiaraBenetti ElisaBalicza PeterMolnar Maria JuditMaver AlesPeterlin BorutMünchau AlexanderLohmann KatjaHerzog RebeccaPauly MartjeMacaya AlfonsCazurro-Gutiérrez AnaPérez-Dueñas BelénMunell FrancinaJarava Clara FrancoMasó Laura BatlleMarcé-Grau AnnaColobran RogerOsorio Andrés Nascimentode Benito Daniel NateraThompson RachelPolavarapu KiranGrimbacher BodoBeeson DavidCossins JudithHackman PeterJohari MridulSavarese MarcoUdd BjarneHorvath RitaChinnery Patrick FRatnaike ThilokaGao FeiSchon KatherineCapella GabrielValle LauraHolinski-Feder ElkeLaner AndreasSteinke-Lange VerenaSchröck EvelinRump AndreasBaşak Ayşe NazlıHemelsoet DimitriDermaut BartSchuermans NikaPoppe BruceVerdin HannahMei DavideVetro AnnalisaBalestrini SimonaGuerrini RenzoClaeys KristlSantenGijs W EBijlsmaEmilia KHofferMariette J VRuivenkampClaudia A LBoztug KaanHaimel MatthiasMaystadt IsabelleCordts IsabellDeschauer MarcusZaganas IoannisKokosali EvgeniaLambros MathioudakisEvangeliou AthanasiosSpilioti MarthaKapaki ElisabethBourbouli MaraStriano PasqualeZara FedericoRiva AntonellaIacomino MicheleUva PaoloScala MarcelloScudieri PaoloCilio Maria-RobertaCarpancea EvelinaDepondt ChantalLederer DamienSznajer YvesDuerinckx SarahMary SandrineDepienne ChristelRoos AndreasMay Patrick
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Academic Journal
Fenmo yejin jishu, Vol 43, Iss 5, Pp 559-567 (2025)
Academic Journal
Demidov, GermanYaldiz, BurcuGarcia-Pelaez, Joséde Boer, ElkeSchuermans, NikaVan de Vondel, LiedeweiParamonov, IdaJohansson, Lennart F.Musacchia, FrancescoBenetti, ElisaBullich, GemmaSablauskas, KarolisBeltran, SergiGilissen, ChristianHoischen, AlexanderOssowski, Stephande Voer, RichardaLohmann, KatjaOliveira, CarlaTopf, AnaVissers, Lisenka E. L. M.null, nullRiess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaSturm, MarcPark, JoohyunSchütz, LeonSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKellner, MelanieResch, BaptistKolen, IngridSynofzik, MatthisWilke, CarloTraschütz, AndreasBeijer, DaniqueHeutink, PeterSchöls, LudgerHengel, HolgerLerche, HolgerBoßelmann, ChristianKegele, JosuaLauerer-Braun, RobertLauxmann, StephanBrunner, HanScheffer, HansHoogerbrugge, Nicoline't Hoen, Peter A. C.Steyaert, WouterKamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, ErikSteehouwer, MarloesNeveling, Korneliavan der Sanden, BartSagath, LydiaKleefstra, TjitskeBrookes, Anthony J.Gibson, SpencerRiaz, UmarWarren, GregNalagandla, Sai AnuhyaWang, Yunze PatrickSukumaran, DeepthiAbadijou, SadeghStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisBruel, Ange-LineCouturier, VictorGut, Ivo GlynnePiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielCodina, Anna EsteveDabad, MarcGut, MartaRaineri, EmanueleGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLucano, CaterinaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleBen Yaou, RabahMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaRyba, LukášLišková, PetraDoležalová, PavlaKrebsová, AliceParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaEfthymiou, StephanieMorsy, HebaCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Bellampalli, RavishankaraMoloney, PatrickRohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaPerry, LukePini, VeronicaMüller, JulianeTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, Jonathande Jonghe, PeterDe Ridder, WillemWeckhuysen, SarahStamberger, HannahMillevert, CharissaSmal, NoorNigro, VincenzoMorleo, ManuelaPinelli, MicheleBanfi, SandroTorella, AnnalauraZeuli, RobertaZanobio, MariateresaPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaBarbosa-Matos, RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.van der Velde, Joeri K.van der Vries, GerbenNeerincx, Pieter B.Roelofs-Prins, DieuwkeRuvolo, Davidvan Gijn, MarielleAbbott, Kristin M.Kerstjens Frederikse, Wilhemina S.Zonneveld-Huijssoon, EvelineKöhler, SebastianMetcalfe, AlisonMoore, RichardVerloes, AlainDrunat, SéverineHeron, DelphineMignot, CyrilKeren, Borisde Sainte Agathe, Jean-MadeleineJamra, Rami AbouAbramowicz, MarcKiliçarslan, Özge AkselAllen, NicholasJavier Alonso García de la Rosa, FranciscoBalestrini, SimonaBalicza, PeterBartolomaeus, TobiasBaşak, Ayşe NazlMasó, Laura BatlleBeeson, DavidBenoit, ValerieBenson, KatherineSánchez, Eva BermejoBijlsma, Emilia K.Bogaert, ElkeBourbouli, MaraBoztug, KaanBrohée, SylvainByrne, SusanGarcia de Oteyza, Andrés CaballeroCapella, GabrielCarpancea, EvelinaCavalleri, GianpieroCazurro-Gutiérrez, AnaChinnery, Patrick F.Cilio, Maria-RobertaCiolfi, AndreaClaeys, KristlColobran, RogerCordts, IsabellCossins, JudithDahan, KarinDallapiccola, BrunoDelanty, NormanDepienne, ChristelDepondt, ChantalDermaut, BartDeschauer, MarcusDesir, JulieDestrée, AnneDrakos, MinasDuerinckx, SarahEstevez, BertaEvangeliou, AthanasiosFallerini, ChiaraFerilli, MarcoFurini, SimoneGagneur, JulienGhani, HamidahGreally, MarieGrimbacher, BodoGuerrini, RenzoHackman, PeterHaimel, MatthiasBouveret, Eva HammarHemelsoet, DimitriHerzog, RebeccaHoffer, Mariette J. V.Holinski-Feder, ElkeHorvath, RitaHuibers, ManonIacomino, MicheleJohari, MridulKapaki, ElisabethKaradurmus, DenizKarakaya, MertKokosali, EvgeniaKorff, ChristianKrass, LeonLacombe, DidierLaner, AndreasLeavis, HelenLederer, DamienLeitão, ElsaLochmüller, HannsMartín, Estrella LópezLuknárová, RebekaMacaya, AlfonsMalaichamy, SivasankarMarcé-Grau, AnnaDelgado, Beatriz MartínezMary, SandrineMasclaux, FrédéricMathioudakis, LambrosMaver, AlesMay, PatrickMaystadt, IsabelleMei, DavideMertes, ChristianMeunier, ColombineMolnar, Maria JuditMonestier, OlivierMoortgat, StéphanieMünchau, AlexanderMunell, FrancinaOsorio, Andrés Nascimentode Benito, Daniel NateraReghan, Mary O.Olimpio, CatarinaParrini, ElenaPauly, MartjePérez-Dueñas, BelénPeterlin, BorutPlatzer, KonradPolavarapu, KiranPoppe, BruceDe la Paz, Manuel PosadaPrivitera, FlaviaRadio, Francesca ClementinaRatnaike, ThilokaRenieri, AlessandraRiva, AntonellaRooryck, CarolineRoos, AndreasRuivenkamp, Claudia A. L.Rump, AndreasSanten, Gijs W. E.Savarese, MarcoScala, MarcelloSchon, KatherineSchröck, EvelinScudieri, PaoloSpilioti, MarthaSteinke-Lange, VerenaStriano, PasqualeSznajer, YvesTartaglia, MarcoThompson, RachelTrimouille, AurelienUdd, BjarneUva, PaoloValle, Lauravan der Veken, Larsvan Heurck, Roxanevan Montfrans, JorisVan Nieuwenhove, ErikaVerdin, HannahWebb, DavidWirth, BrunhildeYépez, Vicente A.Zaganas, IoannisZara, FedericoZguro, KristinaLaurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Fenmo yejin jishu, Vol 43, Iss 3, Pp 317-324 (2025)
Academic Journal
Yaldiz, BurcuKucuk, ErdiHampstead, JulietHofste, TomPfundt, RolphCorominas Galbany, JordiRinne, TuulaYntema, Helger G.Hoischen, AlexanderNelen, MarcelGilissen, ChristianRiess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerLerche, HolgerKegele, JosuaHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, NicolineHoen, Peter A. C. ’tVissers, Lisenka E. L. M.Steyaert, WouterSablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, Nienkete Paske, IrisJanssen, Erikde Boer, ElkeSteehouwer, MarloesKleefstra, TjitskeBrookes, Anthony J.Veal, ColinGibson, SpencerMaddi, VatsalyaMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasTöpf, AnaStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaLišková, PetraDoležalová, PavlaParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaEfthymiou, StephanieMorsy, HebaCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Rohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, JonathanBeijer, Daniquede Jonghe, PeterVan de Vondel, LiedeweiDe Ridder, WillemWeckhuysen, SarahNigro, VincenzoMutarelli, MargheritaMorleo, ManuelaPinelli, MicheleVaravallo, AlessandraBanfi, SandroTorella, AnnalauraMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.Johansson, Lennartvan der Velde, Joeri K.van der Vries, GerbenNeerincx, Pieter B.Ruvolo, DavidAbbott, Kristin M.Frederikse, Wilhemina SKerstjensZonneveld-Huijssoon, EvelineRoelofs-Prins, Dieuwkevan Gijn, MarielleKöhler, SebastianMetcalfe, AlisonVerloes, AlainDrunat, SéverineHeron, DelphineMignot, CyrilKeren, Borisde Sainte Agathe, Jean-MadeleineRooryck, CarolineLacombe, DidierTrimouille, AurelienDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz Martínezde la Rosa, F. Javier Alonso GarcíaCiolfi, AndreaDallapiccola, BrunoPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraFurini, SimoneFallerini, ChiaraBenetti, ElisaBalicza, PeterMolnar, Maria JuditMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMacaya, AlfonsCazurro-Gutiérrez, AnaPérez-Dueñas, BelénMunell, FrancinaJarava, Clara FrancoMasó, Laura BatlleMarcé-Grau, AnnaColobran, RogerOsorio, Andrés Nascimentode Benito, Daniel NateraThompson, RachelPolavarapu, KiranGrimbacher, BodoBeeson, DavidCossins, JudithHackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneHorvath, RitaChinnery, Patrick F.Ratnaike, ThilokaGao, FeiSchon, KatherineCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasBaşak, Ayşe NazlıHemelsoet, DimitriDermaut, BartSchuermans, NikaPoppe, BruceVerdin, HannahMei, DavideVetro, AnnalisaBalestrini, SimonaGuerrini, RenzoClaeys, KristlSanten, Gijs W. E.Bijlsma, Emilia K.Hoffer, Mariette J. V.Ruivenkamp, Claudia A. L.Boztug, KaanHaimel, MatthiasMaystadt, IsabelleCordts, IsabelleDeschauer, MarcusZaganas, IoannisKokosali, EvgeniaLambros, MathioudakisEvangeliou, AthanasiosSpilioti, MarthaKapaki, ElisabethBourbouli, MaraStriano, PasqualeZara, FedericoRiva, AntonellaIacomino, MicheleUva, PaoloScala, MarcelloScudieri, PaoloCilio, Maria-RobertaCarpancea, EvelinaDepondt, ChantalLederer, DamienSznajer, YvesDuerinckx, SarahMary, SandrineDepienne, ChristelRoos, AndreasMay, Patricknull, null
Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert, W, Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human Genomics
Academic Journal
Fenmo yejin jishu, Vol 42, Iss 6, Pp 600-608, 651 (2024)
Academic Journal
Fenmo yejin jishu, Vol 42, Iss 3, Pp 283-289 (2024)
Academic Journal
Fenmo yejin jishu, Vol 43, Iss 6, Pp 776-783 (2025)
Academic Journal
Dianzi Jishu Yingyong, Vol 50, Iss 2, Pp 83-87 (2024)
Academic Journal
van Bodegraven EA; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Lof S; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Jones L; Department of General Surgery, Istituto Ospedaliero Fondazione Poliambulanza, Brescia, Italy.; Aussilhou B; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Yong G; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Jishu W; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Klotz R; Department of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Rocha-Castellanos DM; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Matsumato I; Department of Surgery, Kindai University Faculty of Medicine, Osaka-sayama, Japan.; de Ponthaud C; Department of Digestive, Hepato-biliary-pancreatic and Liver Transplantation, Pitie-Salpetriere Hospital, AP-HP, Sorbonne University, Paris, France.; Tanaka K; Department of Gastroenterological Surgery II, Hokkaido University Faculty of Medicine, Hokkaido, Japan.; Biesel E; Medical Center-University of Freiburg, Department of General and Visceral Surgery, Freiburg, Germany.; Kauffmann E; Division of General and Transplant Surgery, Department of Surgery, University of Pisa, Pisa.; Dumitrascu T; Center of General Surgery and Liver Transplant, Department of Surgery, Fundeni Clinical Institute, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Nagakawa Y; Department of Gastrointestinal and Pediatric Surgery Tokyo Medical University, Tokyo, Japan.; Martí-Cruchaga P; Department of Surgery, Clínica Universitaria de Navarra, Pamplona, Navarra, Spain.; Roeyen G; Department of HPB, Endocrine and Transplantation Surgery, Antwerp University Hospital, Belgium.; Zerbi A; Pancreatic Surgery Unit, Humanitas Clinical and Research Center-IRCCS, Department of Surgery, Rozzano, Milan, Italy.; Goetz M; Department of General, Visceral and Thoracic Surgery, University Medical Center, Hamburg, Germany.; de Meijer VE; Department of Surgery, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.; Pessaux P; Department of Visceral and Digestive surgery, Nouvel Hopital Civil, University Hospital, Strasbourg Institut Hospitalo-Universitaire de Strasbourg, Strasbourg, France.; Ignatavicius P; Department of Surgery, Lithuanian University of Health Sciences, Vilnius, Lithuania.; Demir IE; Technical University of Munich, Department of Surgery, Germany.; Giuffrida M; Parma University Hospital-General Surgery Unit, Department of Surgery, Parma, Italy.; Tingstedt B; Department of Surgery, University Hospital of Skane Lund, Lund, Sweden.; Marino MV; Department of Emergency and General Surgery, P. Giaccone, Hospital, University of Palermo, Italy.; Mastoridis S; Department of Hepatobiliary and Pancreatic Surgery, Oxford University Hospitals NHS, Oxford, United Kingdom.; Brunner M; Department of General and Visceral Surgery, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Germany.; Mora-Oliver I; Biochemical Research Institute, Department of Surgery, INCLICA, Hospital Clinico Universitario Valencia, Spain.; Bortolato C; Department of Surgery, Ospedale dell'Angelo, Venice, Italy.; Gulla A; Institute of Clinical Medicine, Vilnius University Faculty of Medicine, Department of Surgery, Vilnius, Lithuania.; Apers T; Department of General and Hepatopancreatobiliary Surgery and Liver Transplantation, Ghent University Hospital, Ghent, Belgium.; Hermand H; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Mitsuka Y; Department of Gastrointestinal and Pediatric Surgery Tokyo Medical University, Tokyo, Japan.; Popescu I; Center of General Surgery and Liver Transplant, Department of Surgery, Fundeni Clinical Institute, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Boggi U; Division of General and Transplant Surgery, Department of Surgery, University of Pisa, Pisa.; Wittel U; Medical Center-University of Freiburg, Department of General and Visceral Surgery, Freiburg, Germany.; Hirano S; Department of Gastroenterological Surgery II, Hokkaido University Faculty of Medicine, Hokkaido, Japan.; Gaujoux S; Department of Digestive, Hepato-biliary-pancreatic and Liver Transplantation, Pitie-Salpetriere Hospital, AP-HP, Sorbonne University, Paris, France.; Kamei K; Department of Surgery, Kindai University Faculty of Medicine, Osaka-sayama, Japan.; Fernández-Del Castillo C; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Hackert T; Department of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Department of General, Visceral and Thoracic Surgery, University Hospital Hamburg-Eppendorf, Germany.; Kuirong J; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Yi M; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Sauvanet A; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Besselink M; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Abu Hilal M; Department of General Surgery, Istituto Ospedaliero Fondazione Poliambulanza, Brescia, Italy.; Dokmak S; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0372354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1140 (Electronic) Linking ISSN: 00034932 NLM ISO Abbreviation: Ann Surg Subsets: MEDLINE
Academic Journal
Duan W; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Zhang H; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Xie B; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Wang B; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Zhang L; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; College of Life Sciences, Shandong Normal University, Jinan, Shandong, China.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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