학술논문


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'학술논문' 에서 검색결과 17건 | 목록 1~20
Academic Journal
Kato, K, Nishio, Y, McMillan, K J, Al-Maraghi, A, Kroes, H Y, Abdel-Hamid, M S, Jones, E, Shaw, S, Yoshida, A, Otsuji, S, Murofushi, Y, Aamer, W, Bhat, A A, AlRayahi, J, Al-Shabeeb Akil, A S, Aliyev, E, van Binsbergen, E, Janssen, E J, Mehrin, K M, Oishi, H, Kobayashi, R, Horii, T, Hatada, I, Saito, A, Hattori, M, Kawano, Y, Lewis, P A, Heesom, K J, Takarada, T, Sawamoto, K, Matsushita, M, Ogi, T, Butkovic, R, Danson, C, Wilkinson, K A, Fakhro, K A, Zaki, M S, Saitoh, S & Cullen, P J 2025, 'Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy', Science Translational Medicine, vol. 17, no. 805, eadt2426. https://doi.org/10.1126/scitranslmed.adt2426
Academic Journal
Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Manuela MorleoRossella VendittiEvangelos TheodorouLauren C. BriereMarion RoselloAlfonsina TirozziRoberta TammaroNour Al-BadriFrances A. HighJiahai ShiMaria T. AcostaMargaret AdamDavid R. AdamsRaquel L. AlvarezJustin AlveyLaura AmendolaAshley AndrewsEuan A. AshleyCarlos A. BacinoGuney BademciAshok BalasubramanyamDustin BaldridgeJim BaleMichael BamshadDeborah BarbouthPinar Bayrak-ToydemirAnita BeckAlan H. BeggsEdward BehrensGill BejeranoHugo J. BellenJimmy BennettBeverly Berg-RoodJonathan A. BernsteinGerard T. BerryAnna BicanStephanie BivonaElizabeth BlueJohn BohnsackDevon BonnerLorenzo BottoBrenna BoydGabrielle BrownElizabeth A. BurkeLindsay C. BurrageManish J. ButtePeter ByersWilliam E. ByrdJohn CareyOlveen CarrasquilloThomas CassiniTa Chen Peter ChangSirisak ChanprasertHsiao-Tuan ChaoGary D. ClarkTerra R. CoakleyLaurel A. CobbanJoy D. CoganMatthew CogginsF. Sessions ColeHeather A. ColleyCynthia M. CooperHeidi CopeRosario CoronaWilliam J. CraigenAndrew B. CrouseMichael CunninghamPrecilla D’SouzaHongzheng DaiSurendra DasariJoie DavisJyoti G. DayalEsteban C. Dell'AngelicaKatrina DippleDaniel DohertyNaghmeh DorraniArgenia L. DossEmilie D. DouineDawn EarlDavid J. EcksteinLisa T. EmrickChristine M. EngMarni FalkElizabeth L. FiegPaul G. FisherBrent L. FogelIrman ForghaniWilliam A. GahlIan GlassBernadette GochuicoPage C. GoddardRena A. GodfreyKatie Golden-GrantAlana GrajewskiDon HadleySihoun HahnMeghan C. HalleyRizwan HamidKelly HasseyNichole HayesFrances HighAnne HingFuki M. HisamaIngrid A. HolmJason HomMartha Horike-PyneAlden HuangSarah HutchisonWendy IntroneRosario IsasiKosuke IzumiFariha JamalGail P. JarvikJeffrey JarvikSuman JayadevOrpa Jean-MarieVaidehi JobanputraLefkothea KaravitiShamika KetkarDana KileyGonench KilichShilpa N. KobrenIsaac S. KohaneJennefer N. KohlerSusan KorrickMary KozuiraDeborah KrakowDonna M. KrasnewichElijah KravetsSeema R. LalaniByron LamChristina LamBrendan C. LanpherIan R. LanzaKimberly LeBlancBrendan H. LeeRoy LevittRichard A. LewisPengfei LiuXue Zhong LiuNicola LongoSandra K. LooJoseph LoscalzoRichard L. MaasEllen F. MacnamaraCalum A. MacRaeValerie V. MaduroAudreyStephannie MaghiroRachel MahoneyMay Christine V. MalicdanLaura A. MamounasTeri A. ManolioRong MaoKenneth MaravillaRonit MaromGabor MarthBeth A. MartinMartin G. MartinJulian A. Martínez-AgostoShruti MarwahaJacob McCauleyAllyn McConkie-RosellAlexa T. McCrayElisabeth McGeeHeather MeffordJ. Lawrence MerrittMatthew MightGhayda MirzaaEva MoravaPaolo MorettiJohn MulvihillMariko Nakano-OkunoStanley F. NelsonJohn H. NewmanSarah K. NicholasDeborah NickersonShirley Nieves-RodriguezDonna NovacicDevin OglesbeeJames P. OrengoLaura PaceStephen PakJ. Carl PallaisChristina G.S. PalmerJeanette C. PappNeil H. ParkerJohn A. Phillips IIIJennifer E. PoseyLorraine PotockiBarbara N. Pusey SwerdzewskiAaron QuinlanDeepak A. RaoAnna RaperWendy RaskindGenecee RenteriaChloe M. ReuterLynette RivesAmy K. RobertsonLance H. RodanJill A. RosenfeldNatalie RosenwasserFrancis RossignolMaura RuzhnikovRalph SaccoJacinda B. SampsonMario SaportaJudy SchaechterTimothy SchedlKelly SchochDaryl A. ScottC. Ron ScottVandana ShashiJimann ShinEdwin K. SilvermanJanet S. SinsheimerKathy SiscoEdward C. SmithKevin S. SmithLilianna Solnica-KrezelBen SolomonRebecca C. SpillmannJoan M. StolerKathleen SullivanJennifer A. SullivanAngela SunShirley SuttonDavid A. SweetserVirginia SybertHolly K. TaborQueenie K.-G. TanAmelia L.M. TanMustafa TekinFred TelischiWilla ThorsonCynthia J. TifftCamilo ToroAlyssa A. TranRachel A. UngarTiina K. UrvAdeline VanderverMatt VelinderDave ViskochilTiphanie P. VogelColleen E. WahlMelissa WalkerStephanie WallaceNicole M. WalleyJennifer WambachJijun WanLee-kai WangMichael F. WanglerPatricia A. WardDaniel WegnerMonika Weisz HubshmanMark WenerTara WengerMonte WesterfieldMatthew T. WheelerJordan WhitlockLynne A. WolfeKim WorleyChangrui XiaoShinya YamamotoJohn YangZhe ZhangStephan ZuchnerVincenzo NigroAnnalaura TorellaCarmine SpampanatoMichele PinelliSandro BanfiAlessandra VaravalloAngelo SelicorniMilena MarianiMarta MassimelloCecilia DaolioValeria CapraAndrea AccogliMarcello ScalaVincenzo LeuzziFrancesca NardecchiaSerena GalosiMario MastrangeloDonatella MilaniGiuseppina VitielloGiulio PilusoCorrado RomanoPinella FaillaDonatella GrecoChiara PantaleoniClaudia CiaccioStefano D’ArrigoNicola Brunetti PierriGiancarlo ParentiAntonietta CoppolaTeresa MattinaMarcella ZollinoSimona AmentaAlbina TummoloClaudia SantoroAnna GrandoneDaniele De BrasiAntonio VaroneLivia GaravelliCarla MariniStefania BigoniCarmelo PiscopoAntonio TrabaccaMarta De RinaldisAngela PeronElena PuttiLuigi FerranteViviana CetrangoloMelissa A. WalkerRomano TenconiMaria IasconeDavide MeiRenzo GuerriniJasper van der SmagtHester Y. KroesKoen L.I. van GassenMuhammad BilalMuhammad UmairVeronica PingaultTania Attie-BitachJeannine AmielResham EjazLance RodanPankaj B. AgrawalFilippo Del BeneBrunella Franco
American Journal of Human Genetics
Academic Journal
Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant
Eur J Hum Genet
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Academic Journal
Anne H. O’Donnell-LuriaLynn S. PaisVíctor FaundesJordan C. WoodAbigail SvedenVictor LuriaRami Abou JamraAndrea AccogliKimberly AmburgeyBritt Marie AnderlidSilvia Azzarello-BurriAlice A. BasingerClaudia BianchiniLynne M. BirdRebecca BuchertWilfrid CarreSophia CeulemansPerrine CharlesHelen CoxLisa CullitonAurora CurròFlorence DemurgerJames J. DowlingBenedicte Duban-BeduChristèle DubourgSaga Elise EisetLuis F. EscobarAlessandra FerrariniTobias B. HaackMona HashimSolveig HeideKatherine L. HelbigIngo HelbigRaul HerediaDelphine HéronBertrand IsidorAmy R. JonassonPascal JosetBoris KerenFernando KokHester Y. KroesAlinoë LavillaureixXin LuSaskia M. MaasGustavo H.B. MaegawaCarlo L.M. MarcelisPaul R. MarkMarcelo R. MasruhaHeather M. McLaughlinKirsty McWalterEsther U. MelchingerSaadet Mercimek-AndrewsCaroline NavaManuela PendziwiatRichard PersonGian Paolo RamelliLuiza L.P. RamosAnita RauchCaitlin ReaveyAlessandra RenieriAngelika RießAmarilis Sanchez-ValleShifteh SattarCarol SaundersNiklas SchwarzThomas SmolMyriam SrourKatharina SteindlSteffen SyrbeJenny C. TaylorAida TelegrafiIsabelle ThiffaultDoris A. TraunerHelio van der LindenSilvana van KoningsbruggenLaurent VillardIda VogelJulie VogtYvonne G. WeberIngrid M. WentzensenElysa WidjajaJaroslav ZakSamantha BaxterSiddharth BankaLance H. RodanJeremy F. McRaeStephen ClaytonTomas W. FitzgeraldJoanna KaplanisElena PrigmoreDiana RajanAlejandro SifrimStuart AitkenNadia AkawiMohsan AlviKirsty AmbridgeDaniel M. BarrettTanya BayzetinovaPhilip JonesWendy D. JonesDaniel KingNetravathi KrishnappaLaura E. MasonTarjinder SinghAdrian R. TiveyMunaza AhmedUruj AnjumHayley ArcherRuth ArmstrongJana AwadaMeena BalasubramanianDiana BaralleAngela BarnicoatPaul BatstoneDavid BatyChris BennettJonathan BergBirgitta BernhardA. Paul BevanMaria Bitner-GlindziczEdward BlairMoira BlythDavid BohannaLouise BourdonDavid BournLisa BradleyAngela BradySimon BrentCarole BrewerKate BrunstromDavid J. BunyanJohn BurnNatalie CanhamBruce CastleKate ChandlerElena ChatzimichaliDeirdre CilliersAngus ClarkeSusan ClasperJill Clayton-SmithVirginia ClowesAndrea CoatesTrevor ColeIrina ColgiuAmanda CollinsMorag N. CollinsonFiona ConnellNicola CooperLara CresswellGareth CrossYanick CrowMariella D’AlessandroTabib DabirRosemarie DavidsonSally DaviesDylan de VriesJohn DeanCharu DeshpandeGemma DevlinAbhijit DixitAngus DobbieAlan DonaldsonDian DonnaiDeirdre DonnellyCarina DonnellyAngela DouglasSofia DouzgouAlexis DuncanJacqueline EasonSian EllardIan EllisFrances ElmslieKarenza EvansSarah EverestTina FendickRichard FisherFrances FlinterNicola FouldsAndrew FryAlan FryerCarol GardinerLorraine GauntNeeti GhaliRichard GibbonsHarinder GillJudith GoodshipDavid GoudieEmma GrayAndrew GreenPhilip GreeneLynn GreenhalghSusan GribbleRachel HarrisonLucy HarrisonVictoria HarrisonRose HawkinsLiu HeStephen HellensAlex HendersonSarah HewittLucy HildyardEmma HobsonSimon HoldenMuriel HolderSusan HolderGeorgina HollingsworthTessa HomfrayMervyn HumphreysJane HurstBen HuttonStuart IngramMelita IrvingLily IslamAndrew JacksonJoanna JarvisLucy JenkinsDiana JohnsonElizabeth JonesDragana JosifovaShelagh JossBeckie KaembaSandra KazembeRosemary KelsellBronwyn KerrHelen KingstonUsha KiniEsther KinningGail KirbyClaire KirkEmma KivuvaAlison KrausDhavendra KumarV. K. Ajith KumarKatherine LachlanWayne LamAnne LampeCaroline LangmanMelissa LeesDerek LimCheryl LongmanGordon LowtherSally A. LynchAlex MageeEddy MaherAlison MaleSahar MansourKaren MarksKatherine MartinUna MayeEmma McCannVivienne McConnellMeriel McEntagartRuth McGowanKirsten McKayShane McKeeDominic J. McMullanSusan McNerlanCatherine McWilliamSarju MehtaKay MetcalfeAnna MiddletonZosia MiedzybrodzkaEmma MilesShehla MohammedTara MontgomeryDavid MooreSian MorganJenny MortonHood MugalaasiVictoria MurdayHelen MurphySwati NaikAndrea NemethLouise NevittRuth Newbury-EcobAndrew NormanRosie O’SheaCaroline OgilvieKai-Ren OngSoo-Mi ParkMichael J. ParkerChirag PatelJoan PatersonStewart PayneDaniel PerrettJulie PhippsDaniela T. PilzMartin PollardCaroline PottingerJoanna PoultonNorman PrattKatrina PrescottSue PriceAbigail PridhamAnnie ProcterHellen PurnellOliver QuarrellNicola RaggeRaheleh RahbariJosh RandallJulia RankinLucy RaymondDebbie RiceLeema RobertEileen RobertsJonathan RobertsPaul RobertsGillian RobertsAlison RossElisabeth RosserAnand SaggarShalaka SamantJulian SampsonRichard SandfordAjoy SarkarSusann SchweigerRichard ScottIngrid ScurrAnn SelbyAnneke SellerCheryl SequeiraNora ShannonSaba SharifCharles Shaw-SmithEmma ShearingDebbie ShearsEamonn SheridanIngrid SimonicRoldan SingzonZara SkittAudrey SmithKath SmithSarah SmithsonLinda SneddonMiranda SplittMiranda SquiresFiona StewartHelen StewartVolker StraubMohnish SuriVivienne SuttonGanesh Jawahar SwaminathanElizabeth SweeneyKate Tatton-BrownCat TaylorRohan TaylorMark TeinI. Karen TempleJenny ThomsonMarc TischkowitzSusan TomkinsAudrey TorokwaBecky TreacyClaire TurnerPeter TurnpennyCarolyn TysoeAnthony VandersteenVinod VarghesePradeep VasudevanParthiban VijayarangakannanEmma WakelingSarah WallwarkJonathon WatersAstrid WeberDiana WellesleyMargo WhitefordSara WidaaSarah WilcoxEmily WilkinsonDenise WilliamsNicola WilliamsLouise WilsonGeoff WoodsChristopher WraggMichael WrightLaura YatesMichael YauChris NellåkerMichael ParkerHelen V. FirthCaroline F. WrightDavid R. FitzPatrickJeffrey C. BarrettMatthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Academic Journal
European journal of human genetics : EJHG
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, 'Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290. https://doi.org/10.1038/s41431-018-0281-5
Academic Journal
Pediatr Nephrol
Stokman, M F, van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen, K L, van Rooij, I A L M, Giles, R H, Beales, P L, Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Academic Journal
Monroe, G R, Frederix, G W, Savelberg, S M C, de Vries, T I, Duran, K J, van der Smagt, J J, Terhal, P A, van Hasselt, P M, Kroes, H Y, Verhoeven-Duif, N M, Nijman, I J, Carbo, E C, van Gassen, K L, Knoers, N V, Hövels, A M, van Haelst, M M, Visser, G & van Haaften, G 2016, 'Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability', Genetics in Medicine, vol. 18, no. 9, pp. 949-56. https://doi.org/10.1038/gim.2015.200
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[AR] Hester Y. Kroes
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