학술논문
'학술논문'
에서 검색결과 1,210건 | 목록
1~10
Academic Journal
van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; McConkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A.; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K.; Li, Dong; Vissers, Lisenka E.L.M.; Dingemans, Alexander J.M.; Valenzuela, Irene; Verberne, Eline A.; Misra-Isrie, Mala; Zwijnenburg, Petra J.G.; Waisfisz, Quinten; Alders, Mariëlle; Sailer, Sebastian; Schaaf, Christian P.; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
In Genetics in Medicine March 2024 26(3)
Academic Journal
van der Laan, Liselot; Kleinendorst, Lotte; van Hagen, Johanna M.; Waisfisz, Quinten; van Haelst, Mieke M.
In European Journal of Medical Genetics October 2024 71
Academic Journal
Welling, Mila S.; de Groot, Cornelis J.; Mohseni, Mostafa; Meeusen, Renate E.H.; Boon, Mariëtte R.; van Haelst, Mieke M.; van den Akker, Erica L.T.; van Rossum, Elisabeth F.C.
In eClinicalMedicine August 2024 74
Academic Journal
Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; de Villemeur, Thierry B.; Volker-Touw, Catharina M.L.; Verbeek, Nienke; van der Smagt, Jasper J.; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Möller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogné, Benjamin; Besnard, Thomas; Ruffier, Léa; Toutain, Bérénice; Poirier, Léa; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrínardóttir, Hildigunnur; Friðriksdóttir, Rún; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P.A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, François V.; Bézieau, Stéphane; Krüger, Elke; Küry, Sébastien; Ebstein, Frédéric
In The American Journal of Human Genetics 11 July 2024 111(7):1352-1369
Electronic Resource
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido
Kassabian , B , Levy , A M , Gardella , E , Aledo-Serrano , A , Ananth , A L , Brea-Fernández , A J , Caumes , R , Chatron , N , Dainelli , A , De Wachter , M , Denommé-Pichon , A-S , Dye , T J , Fazzi , E , Felt , R , Fernández-Jaén , A , Fernández-Prieto , M , Gantz , E , Gasperowicz , P , Gil-Nagel , A , Gómez-Andrés , D , Greiner , H M , Guerrini , R , Haanpää , M K , Helin , M , Hoyer , J , Hurst , A C E , Kallish , S , Karkare , S N , Khan , A , Kleinendorst , L , Koch , J , Kothare , S V , Koudijs , S M , Lagae , L , Lakeman , P , Leppig , K A , Lesca , G , Lopergolo , D , Lusk , L , Mackenzie , A , Mei , D , Møller , R S , Pereira , E M , Platzer , K , Quelin , C , Revah-Politi , A , Rheims , S , Rodríguez-Palmero , A , Rossi , A , Santorelli , F , Seinfeld , S , Sell , E , Stephenson , D , Szczaluba , K , Trinka , E , Umair , M , Van Esch , H , van Haelst , M M , Veenma , D C M , Weber , S , Weckhuysen , S , Zacher , P , Tümer , Z & Rubboli , G 2024 , ' Developmental epileptic encephalopathy in DLG4 -related synaptopathy ' , Epilepsia , vol. 65 , no. 4 , pp. 1029-1045 .
Academic Journal
Shirley M. Lo-A-Njoe; Eline A. Verberne; Lars T. van der Veken; Eric Arends; J. Peter van Tintelen; Alex V. Postma; Mieke M. van Haelst
Cardiogenetics, Vol 13, Iss 3, Pp 106-112 (2023)
Academic Journal
Abawi, Ozair; Wahab, Rama J.; Kleinendorst, Lotte; Blankers, Lizette A.; Brandsma, Ammelies E.; van Rossum, Elisabeth F.C.; van der Voorn, Bibian; van Haelst, Mieke M.; Gaillard, Romy; van den Akker, Erica L.T.
In The Journal of Pediatrics November 2023 262
Academic Journal
Welling, Mila S.; Mohseni, Mostafa; van der Valk, Eline S.; van Hagen, Johanna M.; Burgerhart, Jan Steven; van Haelst, Mieke M.; van Rossum, Elisabeth F.C.
In iScience 17 March 2023 26(3)
Academic Journal
Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane
American Journal of Human Genetics. 107(3)
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