학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
Academic Journal
Vallbona-Garcia, Antoni; Hamers, Ilse H.J.; van Tienen, Florence H.J.; Ochoteco-Asensio, Juan; Berendschot, Tos T.J.M.; de Coo, Irenaeus F.M.; Benedikter, Birke J.; Webers, Carroll A.B.; Smeets, Hubert J.M.; Gorgels, Theo G.M.F.
In Experimental Eye Research July 2023 232
Academic Journal
Gaasterland, C.M.W.; Klein Haneveld, M.J.; Vyshka, Klea; Hugon, A.; van Eeghen, A.M.; Alhambra, Norma; Anderlid, Britt-Marie; Andres, Stephanie; Aten, Emmelien; Guedes, Rui Barbosa; Bonaglia, Maria C.; Bourgeron, Thomas; Burdeus-Olavarrieta, Monica; Carbin, Maya J.; Cooke, Jennifer; Damstra, Robert J.; de Coo, Irenaeus F.M.; Di Domenico, Stella; Evans, D. Gareth; Fernández-Fructuoso, José Ramón; Grabrucker, Andreas M.; Gunnarson, Cecilia; Hadzsiev, Kinga; Hennekam, Raoul C.; Jesse, Sarah; Kant, Sarina G.; Koza, Sylvia A.; Kuiper, Els; Landlust, Annemiek M.; Lapunzina, Pablo; Loth, Eva; Mansour, Sahar; Maruani, Anna; Mattina, Teresa; Matulevičienė, Aušra; Nevado, Julián; Parker, Susanne; Robert, Sandra; Sala, Carlo; San José Cáceres, Antonia; Schön, Michael; Šiaurytė, Kamilė; Stemkens, Daphne; Stiefsohn, Dominique; Swillen, Ann; Tabet, Anne C.; Toro, Roberto; Turner, Alison; van Balkom, Ingrid D.C.; van Buggenhout, Griet; van Eeghen, Agnies M.; van Ravenswaaij-Arts, Conny M.A.; van Weering, Sabrina; Verpelli, Chiara; Vignes, Stephane; Vogels, Annick; Walinga, Margreet; Stemkens, D.; Maruani, A.; Hadzsiev, K.; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
In European Journal of Medical Genetics June 2023 66(6)
Guo, Le; Govindaraj, Periyasamy; Kievit, Mariëlle; de Coo, Irenaeus F.M.; Gerards, Mike; Hellebrekers, Debby M.E.I.; Stassen, Alphons P.M.; Gayathri, Narayanappa; Taly, Arun B; Sankaran, Bindu Parayil; Smeets, Hubert J.M.
In Neuromuscular Disorders September 2021 31(9):859-864
Academic Journal
Stalpers, Xenia L.; Verrips, Aad; Poll-The, Bwee Tien; Cobben, Jan-Maarten; Snoeck, Irina N.; de Coo, Irenaeus F.M.; Brooks, Alice; Bulk, Saskia; Gooskens, Rob; Fock, Annemarie; Verschuuren-Bemelmans, Corien; Sinke, Richard J.; de Visser, Marianne; Lemmink, Henny H.
In Neuromuscular Disorders June 2013 23(6):461-468
Electronic Resource
van Eeghen, A. M.; Gaasterland, C. M.W.; Haneveld, M. J.Klein; Stemkens, D.; Fernández-Fructuoso, José Ramón; Maruani, Anna; Hadzsiev, K.; Hadzsiev, Kinga; van Balkom, Ingrid D.C.; Alhambra, Norma; Anderlid, Britt Marie; Andres, Stephanie; Aten, Emmelien; Guedes, Rui Barbosa; Bonaglia, Maria C.; Bourgeron, Thomas; Burdeus-Olavarrieta, Monica; Carbin, Maya J.; Kuiper, Els; Cooke, Jennifer; Damstra, Robert J.; de Coo, Irenaeus F.M.; Di Domenico, Stella; Evans, D. Gareth; Grabrucker, Andreas M.; Gunnarson, Cecilia; Hennekam, Raoul C.; Jesse, Sarah; Kant, Sarina G.; Koza, Sylvia A.; van Ravenswaaij-Arts, Conny M.A.; Walinga, Margreet; Landlust, Annemiek M.
van Eeghen , A M , European Phelan-McDermid syndrome guideline consortium , ERN ITHACA Guideline Working Group , Gaasterland , C M W , Haneveld , M J K , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , Stemkens , D , Fernández-Fructuoso , J R , Maruani , A , Maruani , A , Maruani , A , Hadzsiev , K , Hadzsiev , K , van Balkom , I D C , van Balkom , I D C , van Balkom , I D C , Alhambra , N , Anderlid , B M , Anderlid , B M , Andres , S , Aten , E , Guedes , R B , Bonaglia , M C , Bourgeron , T , Burdeus-Olavarrieta , M , Burdeus-Olavarrieta , M , Carbin , M J , Kuiper , E , Cooke , J , Damstra , R J , de Coo , I F M , Di Domenico , S , Evans , D G , Fernández-Fructuoso , J R , Grabrucker , A M , Grabrucker , A M , Grabrucker , A M , Gunnarson , C , Gunnarson , C , Gunnarson , C , Hennekam , R C , Jesse , S , Kant , S G , Koza , S A , van Ravenswaaij-Arts , C M A , Walinga , M , Landlust , A M , van Ravenswaaij-Arts , C M A & van Eeghen , A M 2023 , ' Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome ' , European Journal of Medical Genetics , vol. 66 , no. 7 , 104747 .
Theunissen, Tom E.J. ; Sallevelt, Suzanne C.E.H. ; Hellebrekers, Debby M.E.I.; de Koning, Bart; Hendrickx, Alexandra T.M.; van den Bosch, Bianca J.C.; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Mulder-Den Hartog, Elvira N.M.; de Coo, Irenaeus F.M.; Smeets, Hubert J.M.
In The Journal of Pediatrics March 2017 182:371-374
Academic Journal
Hellebrekers, Debby M.E.I.; Blakely, Emma L.; Hendrickx, Alexandra T.M.; Hardy, Steven A.; Hopton, Sila; Falkous, Gavin; de Coo, Irenaeus F.M.; Smeets, Hubert J.M.; van der Beek, Nadine M.E.; Taylor, Robert W.
Electronic Resource
Le, Thuy Linh; Galmiche, Louise; Levy, Jonathan; Suwannarat, Pim; Hellebrekers, Debby M.E.I.; Morarach, Khomgrit; Boismoreau, Franck; Theunissen, Tom E.J.; Lefebvre, Mathilde; Pelet, Anna; Martinovic, Jelena; Gelot, Antoinette; Guimiot, Fabien; Calleroz, Amanda; Gitiaux, Cyril; Hully, Marie; Goulet, Olivier; Chardot, Christophe; Drunat, Severine; Capri, Yline; Bole-Feysot, Christine; Nitschké, Patrick; Whalen, Sandra; Mouthon, Linda; Babcock, Holly E.; Hofstra, Robert; de Coo, Irenaeus F.M.; Tabet, Anne Claude; Molina, Thierry J.; Keren, Boris; Brooks, Alice; Smeets, Hubert J.M.; Marklund, Ulrika; Gordon, Christopher T.; Lyonnet, Stanislas; Amiel, Jeanne; Bondurand, Nadège
Le , T L , Galmiche , L , Levy , J , Suwannarat , P , Hellebrekers , D M E I , Morarach , K , Boismoreau , F , Theunissen , T E J , Lefebvre , M , Pelet , A , Martinovic , J , Gelot , A , Guimiot , F , Calleroz , A , Gitiaux , C , Hully , M , Goulet , O , Chardot , C , Drunat , S , Capri , Y , Bole-Feysot , C , Nitschké , P , Whalen , S , Mouthon , L , Babcock , H E , Hofstra , R , de Coo , I F M , Tabet , A C , Molina , T J , Keren , B , Brooks , A , Smeets , H J M , Marklund , U , Gordon , C T , Lyonnet , S , Amiel , J & Bondurand , N 2021 , ' Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans ' , Journal of Clinical Investigation , vol. 131 , no. 6 , e145837 .
Academic Journal
Smeets, Hubert J.M.; Sallevelt, Suzanne C.E.H.; Dreesen, Jos C.F.M.; de Die-Smulders, Christine E.M.; de Coo, Irenaeus F.M.
Annals of the New York Academy of Sciences. Sep 01, 2015 1350(1):29-36
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[AR] de Coo, Irenaeus F.M.
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