يعرض 1 - 10 نتائج من 64 نتيجة بحث عن '"Menzies, L."', وقت الاستعلام: 1.08s تنقيح النتائج
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    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

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    العلاقة: Accogli, A., Goergen, S., Izzo, G., Mankad, K., Haratz, K. K., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Vellone, V. G., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben Sira, L., Reches, A. ,. Severino, M. (2021). L1CAM variants cause two distinct imaging phenotypes on fetal MRI. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 8 (10), pp.2004-2012. https://doi.org/10.1002/acn3.51448Test.; http://hdl.handle.net/11343/301749Test

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