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1دورية أكاديمية
المؤلفون: Ververi, A, Zagaglia, S, Menzies, L, Baptista, J, Caswell, R, Baulac, S, Ellard, S, Lynch, S, Consortium, GER, Jacques, TS, Chawla, MS, Heier, M, Kulseth, MA, Mero, I-L, Våtevik, AK, Kraoua, I, Rhouma, HB, Younes, TB, Miladi, Z, Turki, IBY, Jones, WD, Clement, E, Eltze, C, Mankad, K, Merve, A, Parker, J, Hoskins, B, Pressler, R, Sudhakar, S, DeVile, C, Homfray, T, Kaliakatsos, M, Ponnudas, PP, Robinson, R, Keim, SMB, Habibi, I, Reymond, A, Sisodiya, SM, Hurst, JA
وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest; Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; et al. Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; Chawla, MS; Heier, M; Kulseth, MA; Mero, I-L; Våtevik, AK; Kraoua, I; Rhouma, HB; Younes, TB; Miladi, Z; Turki, IBY; Jones, WD; Clement, E; Eltze, C; Mankad, K; Merve, A; Parker, J; Hoskins, B; Pressler, R; Sudhakar, S; DeVile, C; Homfray, T; Kaliakatsos, M; Ponnudas, PP; Robinson, R; Keim, SMB; Habibi, I; Reymond, A; Sisodiya, SM; Hurst, JA (2023) Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Hum Mol Genet, 32 (4). pp. 580-594. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddac225Test SGUL Authors: Homfray, Tessa
الإتاحة: https://doi.org/10.1093/hmg/ddac225Test
https://openaccess.sgul.ac.uk/id/eprint/115070Test/
https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest -
2دورية أكاديمية
المؤلفون: Alharatani, R, Ververi, A, Beleza-Meireles, A, Ji, W, Mis, E, Patterson, QT, Griffin, JN, Bhujel, N, Chang, CA, Dixit, A, Konstantino, M, Healy, C, Hannan, S, Neo, N, Cash, A, Li, D, Bhoj, E, Zackai, EH, Cleaver, R, Baralle, D, McEntagart, M, Newbury-Ecob, R, Scott, R, Hurst, JA, Au, PYB, Hosey, MT, Khokha, M, Marciano, DK, Lakhani, SA, Liu, KJ
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112552/1/ddaa050.pdfTest; Alharatani, R; Ververi, A; Beleza-Meireles, A; Ji, W; Mis, E; Patterson, QT; Griffin, JN; Bhujel, N; Chang, CA; Dixit, A; et al. Alharatani, R; Ververi, A; Beleza-Meireles, A; Ji, W; Mis, E; Patterson, QT; Griffin, JN; Bhujel, N; Chang, CA; Dixit, A; Konstantino, M; Healy, C; Hannan, S; Neo, N; Cash, A; Li, D; Bhoj, E; Zackai, EH; Cleaver, R; Baralle, D; McEntagart, M; Newbury-Ecob, R; Scott, R; Hurst, JA; Au, PYB; Hosey, MT; Khokha, M; Marciano, DK; Lakhani, SA; Liu, KJ (2020) Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Hum Mol Genet, 29 (11). pp. 1900-1921. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddaa050Test SGUL Authors: McEntagart, Meriel
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3دورية أكاديمية
المؤلفون: Ververi, A., Zagaglia, S., Menzies, L., Baptista, J., Caswell, R., Baulac, S., Ellard, S., Lynch, S., Consortium, G. E. R., Jacques, T. S., Chawla, M. S., Heier, M., Kulseth, M. A., Mero, I. L., Våtevik, A. K., Kraoua, I., Rhouma, H. B., Younes, T. B., Miladi, Z., Turki, I. B. Y., Jones, W. D., Clement, E., Eltze, C., Mankad, K., Merve, A., Parker, J., Hoskins, B., Pressler, R., Sudhakar, S., DeVile, C., Homfray, T., Kaliakatsos, M., Ponnudas, P. P., Robinson, R., Keim, S. M. B., Habibi, I., Reymond, A., Sisodiya, S. M., Hurst, J. A.
العلاقة: Hum Mol Genet. 2022 Sep 6:ddac225. doi:10.1093/hmg/ddac225.; https://rde.dspace-express.com/handle/11287/622578Test; Human molecular genetics
الإتاحة: https://doi.org/10.1093/hmg/ddac225Test
https://rde.dspace-express.com/handle/11287/622578Test
