학술논문
'학술논문'
에서 검색결과 103건 | 목록
1~10
Academic Journal
Jeanne, M; Demory, H; Moutal, A; Vuillaume, ML; Blesson, S; Thepault, RA; Marouillat, S; Halewa, J; Maas, SM; Motazacker, MM; Mancini, GMS; Van Slegtenhorst, MA; Andreou, A; Cox, H; Vogt, J; Laufman, J; Kostandyan, N; Babikyan, D; Hancarova, M; Bendova, S; Sedlacek, Z; Aldinger, KA; Sherr, EH; Argilli, E; England, EM; Audebert-Bellanger, S; Bonneau, D; Colin, E; Denomme-Pichon, AS; Gilbert-Dussardier, B; Isidor, B; Kury, S; Odent, S; Redon, R; Khanna, R; Dobyns, WB; Bezieau, S; Honnorat, J; Lohkamp, B; Toutain, A; Laumonnier, F
American journal of human genetics. 108(5):951-961
Academic Journal
Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Lord, CJ; Vissers, LELM; de Vries, BBA
American journal of human genetics. 100(4):650-658
Academic Journal
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Electronic Resource
Cheng, H; Dharmadhikari, AV; Varland, S; Ma, N; Domingo, D; Kleyner, R; Rope, AF; Yoon, M; Stray-Pedersen, A; Posey, JE; Crews, SR; Eldomery, MK; Akdemir, ZC; Lewis, AM; Sutton, VR; Rosenfeld, JA; Conboy, E; Agre, K; Xia, F; Walkiewicz, M; Longoni, M; High, FA; van Slegtenhorst, MA; Mancini, GMS; Finnila, CR; van Haeringen, A; den Hollander, N; Ruivenkamp, C; Naidu, S; Mahida, S; Palmer, EE; Murray, L; Lim, D; Jayakar, P; Parker, MJ; Giusto, S; Stracuzzi, E; Romano, C; Beighley, JS; Bernier, RA; Küry, S; Nizon, M; Corbett, MA; Shaw, M; Gardner, A; Barnett, C; Armstrong, R; Kassahn, KS; Van Dijck, A; Vandeweyer, G; Kleefstra, T; Schieving, J; Jongmans, MJ; de Vries, BBA; Pfundt, R; Kerr, B; Rojas, SK; Boycott, KM; Person, R; Willaert, R; Eichler, EE; Kooy, RF; Yang, Y; Wu, JC; Lupski, JR; Arnesen, T; Cooper, GM; Chung, WK; Gecz, J; Stessman, HAF; Meng, L; Lyon, GJ
Academic Journal
Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.
Electronic Resource
van der Linde, IHM; Hiemstra, YL; Bokenkamp, R; Mil, Annemieke; Breuning, MH; Ruivenkamp, C; ten Broeke, SW; Veldkamp, RF; Waning, Jaap; van Slegtenhorst, MA; Spaendonck-Zwarts, KY; Deprez, RHL; Herkert, JC; Boven, LA; van der Zwaag, PA; Jongbloed, JDH; Bootsma, M; Barge-Schaapveld, D
Electronic Resource
Ruijmbeek, Claudine Wb; Housley, Filomena; Idrees, Hafiza; Housley, Michael P; Pestel, Jenny; Keller, Leonie; Lai, Jason Kh; der Linde, Herma C van; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N; Almesned, Abdulrahman; Dalinghaus, Michiel; den Bersselaar, Lisa M van; van Slegtenhorst, Marjon A; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J; Stainier, Didier Yr; Verhagen, Judith Ma; Reischauer, Sven
JCI insight vol.8 (2023) date: 2023-09-08 nr.17 [ISSN 2379-3708]
Electronic Resource
Sa, MJN; Venselaar, H; Wiel, L; Trimouille, A; Lasseaux, E; Naudion, S; Lacombe, D; Piton, A; Vincent-Delorme, C; Zweier, C; Reis, A; Trollmann, R; Ruiz, A; Gabau, E; Vetro, A; Guerrini, R; Bakhtiari, S; Kruer, MC; Amor, DJ; Cooper, MS; Bijlsma, EK; Barakat, TS; van Dooren, MF; van Slegtenhorst, M; Pfundt, R; Gilissen, C; Willemsen, MA; de Vries, BBA; de Brouwer, APM; Koolen, DA
Electronic Resource
Herkert, JC; Verhagen, Judith; Yotti, R; Haghighi, A; Phelan, DG; James, PA; Brown, NJ; Stutterd, C; Macciocca, I; Leong, K; Bulthuis, MLC; Bever, Yolande; van Slegtenhorst, Marjon; Boven, LG; Roberts, AE; Agarwal, R; Seidman, J; Lakdawala, NK; Fernandez-Aviles, F; Burke, MA; Pierpont, ME; Braunlin, E; Aaglayan, AO; Barge-Schaapveld, D; Birnie, E; Van Osch - Gevers, Lennie; van Langen, IM; Jongbloed, JD; Lockhart, PJ; Amor, DJ; Seidman, CE; De Graaf - van de Laar, Ingrid
Herkert , JC , Verhagen , J , Yotti , R , Haghighi , A , Phelan , DG , James , PA , Brown , NJ , Stutterd , C , Macciocca , I , Leong , K , Bulthuis , MLC , Bever , Y , van Slegtenhorst , M , Boven , LG , Roberts , AE , Agarwal , R , Seidman , J , Lakdawala , NK , Fernandez-Aviles , F , Burke , MA , Pierpont , ME , Braunlin , E , Aaglayan , AO , Barge-Schaapveld , D , Birnie , E , Van Osch - Gevers , L , van Langen , IM , Jongbloed , JD , Lockhart , PJ , Amor , DJ , Seidman , CE & De Graaf - van de Laar , I 2020 , ' Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants ' , American Heart Journal , vol. 225 , pp. 108-119 .
Electronic Resource
Harper , CB , Verheijen - Mancini , G , van Slegtenhorst , M & Cousin , MA 2017 , ' Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder ' , Neurobiology of Disease , vol. 108 , pp. 298-306 .
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