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1دورية أكاديمية
المؤلفون: Polubothu, S, Zecchin, D, Al-Olabi, L, Lionarons, DA, Harland, M, Horswell, S, Thomas, AC, Hunt, L, Wlodarchak, N, Aguilera, P, Brand, S, Bryant, D, Carrera, C, Chen, H, Elgar, G, Harwood, CA, Howell, M, Larue, L, Loughlin, S, MacDonald, J, Malvehy, J, Barberan, SM, da Silva, VM, Molina, M, Morrogh, D, Moulding, D, Nsengimana, J, Pittman, A, Puig-Butille, J-A, Parmar, K, Sebire, NJ, Scherer, S, Stadnik, P, Stanier, P, Tell, G, Waelchli, R, Zarrei, M, Puig, S, Bataille, V, Xing, Y, Healy, E, Moore, GE, Di, W-L, Newton-Bishop, J, Downward, J, Kinsler, VA
المصدر: Genetics in Medicine (2021) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10130431/1/s41436-021-01204-y.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10130431Test/
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2دورية أكاديمية
المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.
المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.
مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575
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3دورية أكاديمية
المؤلفون: Giardino G., Radwan N., Koletsi P., Morrogh D. M., Adams S., Ip W., Worth A., Jones A., Meyer-Parsonson I., Gaspar H. B., Gilmour K., Davies E. G., Ladomenou F.
المساهمون: Giardino, G., Radwan, N., Koletsi, P., Morrogh, D. M., Adams, S., Ip, W., Worth, A., Jones, A., Meyer-Parsonson, I., Gaspar, H. B., Gilmour, K., Davies, E. G., Ladomenou, F.
مصطلحات موضوعية: Adolescent, Adult, Autoimmunity, Child, Preschool, DiGeorge Syndrome, Female, Human, Infant, Male, Young Adult
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000471256200007; volume:133; issue:24; firstpage:2586; lastpage:2596; numberofpages:11; journal:BLOOD; http://hdl.handle.net/11588/793136Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068198387; http://www.bloodjournal.org/content/bloodjournal/133/24/2586.full.pdfTest
الإتاحة: https://doi.org/10.1182/blood.2018885244Test
http://hdl.handle.net/11588/793136Test
http://www.bloodjournal.org/content/bloodjournal/133/24/2586.full.pdfTest -
4دورية أكاديمية
المؤلفون: Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djémié, T, Bartnik-Glaska, M, Ceulemans, B, Helen Cross, J, Deconinck, T, Masi, SD, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, JR, Lucenteforte, E, Madia, F, Mefford, HC, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, JR, Esch, HV, Paesschen, WV, Waters, JJ, Weckhuysen, S, Zara, F, Jonghe, PD, Sisodiya, SM, Marini, C, EuroEPINOMICS-RES Consortium, ., EpiCNV Consortium, .
المصدر: Epilepsia (2019) (In press).
مصطلحات موضوعية: SNP array, array CGH, copy number variants, epilepsy genes
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10071080Test/
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5دورية أكاديمية
المؤلفون: Seselgyte, R, Bryant, D, Demetriou, C, Ishida, M, Peskett, E, Moreno, N, Morrogh, D, Sell, D, Lees, M, Farrall, M, Moore, GE, Sommerlad, B, Pauws, E, Stanier, P
المصدر: Journal of Dental Research , 98 (6) pp. 659-665. (2019)
مصطلحات موضوعية: Cleft palate, Craniofacial biology/genetics, gene expression, oral pathology, speech pathology, transcription factor(s)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10068232/1/Stanier_Disruption%20of%20FOXF2%20as%20a%20likely%20cause%20of%20absent%20uvula%20in%20a%20large%20Egyptian%20family_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10068232Test/
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6دورية أكاديمية
المؤلفون: Coppola, A, Morrogh, D, Farrell, F, Balestrini, S, Hernandez-Hernandez, L, Krithika, S, Sander, JW, Waters, JJ, Sisodiya, SM
المصدر: Molecular Syndromology , 9 (1) pp. 38-44. (2018)
مصطلحات موضوعية: Copy number variation, Epilepsy comorbidity, Nonconvulsive status epilepticus
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1575653/1/Coppola%20et%20al%2017q25.3%20deletion_28thMarch2017_.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1575653Test/
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7دورية أكاديمية
المؤلفون: Le Quesne Stabej, P, James, C, Ocaka, L, Tekman, M, Grunewald, S, Clement, E, Stanescu, HC, Kleta, R, Morrogh, D, Calder, A, Williams, HJ, Bitner-Glindzicz, M
المصدر: Orphanet Journal of Rare Diseases , 12 , Article 24. (2017)
مصطلحات موضوعية: Autosomal recessive non-syndromic hearing loss, COL1A1 C-propeptide cleavage site, Mosaicism, Next generation sequencing, Osteogenesis imperfecta, PDZD7
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1540752/1/James_art%25253A10.1186%25252Fs13023-017-0582-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1540752Test/
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8دورية أكاديمية
المؤلفون: Meyer, E, Carss, KJ, Rankin, J, Nichols, JM, Grozeva, D, Joseph, AP, Mencacci, NE, Papandreou, A, Ng, J, Barral, S, Ngoh, A, Ben-Pazi, H, Willemsen, MA, Arkadir, D, Barnicoat, A, Bergman, H, Bhate, S, Boys, A, Darin, N, Foulds, N, Gutowski, N, Hills, A, Houlden, H, Hurst, JA, Israel, Z, Kaminska, M, Limousin, P, Lumsden, D, McKee, S, Misra, S, Mohammed, SS, Nakou, V, Nicolai, J, Nilsson, M, Pall, H, Peall, KJ, Peters, GB, Prabhakar, P, Reuter, MS, Rump, P, Segel, R, Sinnema, M, Smith, M, Turnpenny, P, White, SM, Wieczorek, D, Wiethoff, S, Wilson, BT, Winter, G, Wragg, C, Pope, S, Heales, SJ, Morrogh, D, UK10K Consortium, ., Deciphering Developmental Disorders Study, ., NIHR BioResource Rare Diseases Consortium, ., Pittman, A, Carr, LJ, Perez-Dueñas, B, Lin, JP, Reis, A, Gahl, WA, Toro, C, Bhatia, KP, Wood, NW, Kamsteeg, EJ, Chong, WK, Gissen, P, Topf, M, Dale, RC, Chubb, JR, Raymond, FL, Kurian, MA
المصدر: Nature Genetics , 49 (2) pp. 223-237. (2017)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1534406/1/Meyer_Mutations%20in%20the%20histone%20methyltransferase%20gene.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1534406Test/
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9دورية أكاديمية
المؤلفون: Buonocore, F., Kuehnen, P., Suntharalingham, J.P., Del Valle, I., Digweed, M., Stachelscheid, H., Khajavi, N., Didi, M., Brady, A.F., Blankenstein, O., Procter, A.M., Dimitri, P., Wales, J.K.H., Ghirri, P., Knoebl, D., Strahm, B., Erlacher, M., Wlodarski, M.W., Chen, W., Kokai, G.K., Anderson, G., Morrogh, D., Moulding, D.A., McKee, S. A., Niemeyer, C.M., Grueters, A., Achermann, J.C.
مصطلحات موضوعية: Cancer Research, Function and Dysfunction of the Nervous System
وصف الملف: application/pdf
العلاقة: http://edoc.mdc-berlin.de/16563/13/16563oa.pdfTest; http://edoc.mdc-berlin.de/16563/2/16563suppl.pdfTest; Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. Buonocore, F. and Kuehnen, P. and Suntharalingham, J.P. and Del Valle, I. and Digweed, M. and Stachelscheid, H. and Khajavi, N. and Didi, M. and Brady, A.F. and Blankenstein, O. and Procter, A.M. and Dimitri, P. and Wales, J.K.H. and Ghirri, P. and Knoebl, D. and Strahm, B. and Erlacher, M. and Wlodarski, M.W. and Chen, W. and Kokai, G.K. and Anderson, G. and Morrogh, D. and Moulding, D.A. and McKee, S. A. and Niemeyer, C.M. and Grueters, A. and Achermann, J.C. Journal of Clinical Investigation 127 (5): 1700-1713. 1 May 2017
الإتاحة: https://doi.org/10.1172/JCI91913Test
http://edoc.mdc-berlin.de/16563Test/
https://edoc.mdc-berlin.de/16563Test/
http://edoc.mdc-berlin.de/16563/13/16563oa.pdfTest
http://edoc.mdc-berlin.de/16563/2/16563suppl.pdfTest -
10دورية أكاديمية
المؤلفون: Kinsler, VA, Polubothu, S, Calonje, JE, Chong, WK, Thompson, D, Jacques, TS, Morrogh, D
المصدر: Acta Neuropathologica , 133 (2) pp. 329-331. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1532027/1/art%253A10.1007%252Fs00401-016-1651-0.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1532027Test/
