المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

وصف الملف: application/pdf; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdf; https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsx; https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdf; https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsx; https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsx; Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; et al. Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; van Slegtenhorst, M; Allen, NM; Kehoe, CM; Robinson, HK; Pang, L; Banu, SH; Zaman, M; Efthymiou, S; Houlden, H; Järvelä, I; Lauronen, L; Määttä, T; Schrauwen, I; Leal, SM; Ruivenkamp, CAL; Barge-Schaapveld, DQCM; Peeters-Scholte, CMPCD; Galehdari, H; Mazaheri, N; Sisodiya, SM; Harrison, V; Sun, A; Thies, J; Pedroza, LA; Lara-Taranchenko, Y; Chinn, IK; Lupski, JR; Garza-Flores, A; McGlothlin, J; Yang, L; Huang, S; Wang, X; Jewett, T; Rosso, G; Lin, X; Mohammed, S; Merritt, JL; Mirzaa, GM; Timms, AE; Scheck, J; Elting, MW; Polstra, AM; Schenck, L; Ruzhnikov, MRZ; Vetro, A; Montomoli, M; Guerrini, R; Koboldt, DC; Mosher, TM; Pastore, MT; McBride, KL; Peng, J; Pan, Z; Willemsen, M; Koning, S; Turnpenny, PD; de Vries, BBA; Gilissen, C; Pfundt, R; Lees, M; Braddock, SR; Klemp, KC; Vansenne, F; van Gijn, ME; Quindipan, C; Deardorff, MA; Hamm, JA; Putnam, AM; Baud, R; Walsh, L; Lynch, SA; Baptista, J; Person, RE; Monaghan, KG; Crunk, A; Keller-Ramey, J; Reich, A; Elloumi, HZ; Alders, M; Kerkhof, J; McConkey, H; Haghshenas, S; Genomics England Research Consortium; Maroofian, R; Sadikovic, B; Banka, S; Arold, ST; Barakat, TS (2021) Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23 (11). pp. 2122-2137. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01246-2 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114578/
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdf
https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsx
https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdf
https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsx
https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsx
https://doi.org/10.1038/s41436-021-01246-2

المؤلفون: Weerts, MJA, Lanko, K, Guzman-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londono, KJ, Pena-Guerra, KA, Van Bever, Y, Van Paassen, BW, Kievit, A, Van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Jarvela, I, Lauronen, L, Maatta, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

المصدر: Genetics in Medicine (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10133041/1/s41436-021-01246-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10133041/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10133041/1/s41436-021-01246-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10133041/

المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

مصطلحات موضوعية: Epilepsy, Histone-Lysine N-Methyltransferase, Humans, Intellectual Disability, Male, Neurodevelopmental Disorders, Phenotype, Seizures

وصف الملف: 2122-2137; Print-Electronic; application/pdf

Relation: E-ISSN:1530-0366; http://hdl.handle.net/10026.1/19161

الاتاحة: http://hdl.handle.net/10026.1/19161
https://doi.org/10.1038/s41436-021-01246-2