المؤلفون: Martins, M, Oliveira, AR, Martins, S, Vieira, JP, Perdigão, P, Fernandes, AR, de Almeida, LP, Palma, PJ, Sequeira, DB, Santos, JM, Duque, F, Oliveira, G, Cardoso, AL, Peça, J, Seabra, CM

مصطلحات موضوعية: Child, Cilia / genetics, DNA-Binding Proteins / genetics, Epilepsy* / genetics, Intellectual Disability* / genetics, Neurodevelopmental Disorders, Seizures, HDE NEU PED

العلاقة: Int J Mol Sci . 2023 Aug 9;24(16):12603; http://hdl.handle.net/10400.17/4772Test

الإتاحة: https://doi.org/10.3390/ijms241612603Test
http://hdl.handle.net/10400.17/4772Test

المؤلفون: Redin, C, van den Brand, H, Collins, RL, Kammin, T, Mitchell, E, Hodge, JC, Hanscom, C, Pillalamarri, V, Seabra, CM, Abbott, MA, Abdul-Rahman, OA, Aberg, E, Adley, R, Alcaraz-Estrada, SL, Alkuraya, FS, An, Y, Anderson, MA, Antolik, C, Anyane-Yeboa, K, Atkin, JF, Bartell, T, Bernstein, JA, Beyer, E, Blumenthal, I, Bongers, E, Brilstra, EH, Brown, CW, Bruggenwirth, HT, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, BB, Cushing, T, David, D, Deardorff, MA, Dheedene, A, D'Hooghe, M, de Vries, BBA, Earl, DL, Ferguson, HL, Fisher, H, Fitzpatrick, DR, Gerrol, P, Giachino, D, Glessner, JT, Gliem, T, Grady, M, Graham, BH

المصدر: Redin , C , van den Brand , H , Collins , RL , Kammin , T , Mitchell , E , Hodge , JC , Hanscom , C , Pillalamarri , V , Seabra , CM , Abbott , MA , Abdul-Rahman , OA , Aberg , E , Adley , R , Alcaraz-Estrada , SL , Alkuraya , FS , An , Y , Anderson , MA , Antolik , C , Anyane-Yeboa , K , Atkin , JF , Bartell , T , Bernstein , JA , Beyer , E , Blumenthal , I , Bongers ....

الإتاحة: https://doi.org/10.1038/ng.3720Test
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544cTest
http://hdl.handle.net/1765/108340Test

المؤلفون: Redin, C, van den Brand, H, Collins, RL, Kammin, T, Mitchell, E, Hodge, JC, Hanscom, C, Pillalamarri, V, Seabra, CM, Abbott, MA, Abdul-Rahman, OA, Aberg, E, Adley, R, Alcaraz-Estrada, SL, Alkuraya, FS, An, Y, Anderson, MA, Antolik, C, Anyane-Yeboa, K, Atkin, JF, Bartell, T, Bernstein, JA, Beyer, E, Blumenthal, I, Bongers, E, Brilstra, EH, Brown, CW, Bruggenwirth, HT, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, BB, Cushing, T, David, D, Deardorff, MA, Dheedene, A, D'Hooghe, M, de Vries, BBA, Earl, DL, Ferguson, HL, Fisher, H, Fitzpatrick, DR, Gerrol, P, Giachino, D, Glessner, JT, Gliem, T, Grady, M, Graham, BH, Griffis, C, Gripp, KW, Gropman, AL, Hanson-Kahn, A, Harris, DJ, Hayden, MA, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, RJ, Hubshman, MW, Innes, AM, Irons, M, Irving, M, Jacobsen, JC, Janssens, S, Jewett, T, Johnson, JP, Jongmans, M C, Kahler, SG, Koolen, DA (David), Korzelius, J, Kroisel, PM, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, AV, Li, HB, Li, H, Liao, EC, Lim, C, Lose, EJ, Lucente, D, Macera, MJ, Manavalan, P, Mandrile, G, Marcelis, CL, Margolin, L, Mason, T, Masser-Frye, D, McClellan, MW, Mendoza, CJZ, Menten, B, Middelkamp, S, Mikami, LR, Moe, E, Mohammed, S, Mononen, T, Mortenson, ME, Moya, G, Nieuwint, AW, Ordulu, Z, Parkash, S, Pauker, SP, Pereira, S, Perrin, D, Phelan, K, Aguilar, REP, Poddighe, PJ, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, SLP, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, MR, Tagoe, J, Thakuria, JV, van Bon, BW, Kamp, J, van der Burgt, I, van Essen, T, van Ravenswaaij-Arts, CM, van Roosmalen, MJ, Vergult, S, Volker-Touw, CML, Warburton, DP, Waterman, MJ, Wiley, S, Wilson, A, Yerena-de Vega, MDA, Zori, RT, Levy, B, Brunner, HG, de Leeuw, N, Kloosterman, WP, Thorland, EC, Morton, CC, Gusella, JF, Talkowski, ME

المصدر: Redin , C , van den Brand , H , Collins , RL , Kammin , T , Mitchell , E , Hodge , JC , Hanscom , C , Pillalamarri , V , Seabra , CM , Abbott , MA , Abdul-Rahman , OA , Aberg , E , Adley , R , Alcaraz-Estrada , SL , Alkuraya , FS , An , Y , Anderson , MA , Antolik , C , Anyane-Yeboa , K , Atkin , JF , Bartell , T , Bernstein , JA , Beyer , E , Blumenthal , I , Bongers ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544cTest

الإتاحة: https://doi.org/10.1038/ng.3720Test
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544cTest
http://hdl.handle.net/1765/108340Test