المؤلفون: Jansen, S, Hoischen, A, Coe, BP, Carvill, GL, Van Esch, H, Bosch, DGM, Andersen, UA, Baker, C, Bauters, M, Bernier, RA, van Bon, BW, Claahsen-van der Grinten, HL, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, MJ, Marcelis, C, McKenzie, F, Monin, ML, Nava, C, Schuurs-Hoeijmakers, JH, Pfundt, R, Steehouwer, M, Stevens, SJC, Stumpel, CT, Vansenne, F, Vinci, M, van de Vorst, M, de Vries, P, Witherspoon, K, Veltman, JA, Brunner, HG, Mefford, HC, Romano, C, Vissers, LELM, Eichler, EE, de Vries, BBA

المصدر: European journal of human genetics : EJHG. 26(1):54-63

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137517595Test

المؤلفون: Myers, KA, Marini, C, Carvill, GL, McTague, A, Panetta, J, Stutterd, C, Stanley, T, Marin, S, Nguyen, J, Barba, C, Rosati, A, Scott, RH, Mefford, HC, Guerrini, R, Scheffer, IE

العلاقة: NHMRC/1091593; pii: NG2020016345; Myers, K. A., Marini, C., Carvill, G. L., McTague, A., Panetta, J., Stutterd, C., Stanley, T., Marin, S., Nguyen, J., Barba, C., Rosati, A., Scott, R. H., Mefford, H. C., Guerrini, R. & Scheffer, I. E. (2021). Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. NEUROLOGY-GENETICS, 7 (2), https://doi.org/10.1212/NXG.0000000000000579Test.; http://hdl.handle.net/11343/278143Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000579Test
http://hdl.handle.net/11343/278143Test

المؤلفون: Mencacci, NE, Brockmann, MM, Dai, J, Pajusalu, S, Atasu, B, Campos, J, Pino, G, Gonzalez-Latapi, P, Patzke, C, Schwake, M, Tucci, A, Pittman, A, Simon-Sanchez, J, Carvill, GL, Balint, B, Wiethoff, S, Warner, TT, Papandreou, A, Soo, AKS, Rein, R, Kadastik-Eerme, L, Puusepp, S, Reinson, K, Tomberg, T, Hanagasi, H, Gasser, T, Bhatia, KP, Kurian, MA, Lohmann, E, Õunap, K, Rosenmund, C, Südhof, T, Wood, N, Krainc, D, Acuna, C

المصدر: Journal of Clinical Investigation (JCI) , 131 (7) , Article e140625. (2021)

مصطلحات موضوعية: Genetic diseases, Genetics, Movement disorders, Neuroscience, Synapses

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10121820/1/Bhatia_140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10121820Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10121820/1/Bhatia_140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10121820Test/

المؤلفون: Happ, HC, Sadleir, LG, Zemel, M, de Valles-Ibáñez, G, Hildebrand, MS, McConkie-Rosell, A, McDonald, M, May, H, Sands, T, Aggarwal, V, Elder, C, Feyma, T, Bayat, A, Møller, RS, Fenger, CD, Klint Nielsen, JE, Datta, AN, Gorman, KM, King, MD, Linhares, ND, Burton, BK, Paras, A, Ellard, S, Rankin, J, Shukla, A, Majethia, P, Olson, RJ, Muthusamy, K, Schimmenti, LA, Starnes, K, Sedláčková, L, Štěrbová, K, Vlčková, M, Laššuthová, P, Jahodová, A, Porter, BE, Couque, N, Colin, E, Prouteau, C, Collet, C, Smol, T, Caumes, R, Vansenne, F, Bisulli, F, Licchetta, L, Person, R, Torti, E, McWalter, K, Webster, R, Gerard, EE, Lesca, G, Szepetowski, P, Scheffer, IE, Mefford, HC, Carvill, GL

العلاقة: pii: WNL.0000000000201492; Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D. ,. Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100 (6), pp.e603-e615. https://doi.org/10.1212/WNL.0000000000201492Test.; http://hdl.handle.net/11343/339796Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000201492Test
http://hdl.handle.net/11343/339796Test

المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Galey, M, Goffena, J, Gibson, SB, Allan, TJ, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, N, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Hubshman, MW, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC

العلاقة: NHMRC/1172897; NHMRC/2010562; pii: 2023.10.11.23296741; LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Galey, M., Goffena, J., Gibson, S. B., Allan, T. J., Nyaga, D. M., Lieffering, N., Hebbar, M., Walker, E. V., Darnell, D., Olsen, S. R., Kolekar, P. ,. Mefford, H. C. (2023). Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv, 4 (10-23), pp.2023.10.11.23296741-. https://doi.org/10.1101/2023.10.11.23296741Test.; http://hdl.handle.net/11343/343960Test

الإتاحة: https://doi.org/10.1101/2023.10.11.23296741Test
http://hdl.handle.net/11343/343960Test

المؤلفون: Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Study, Deciphering Developmental Disorders, Consortium, UK10K, BioResource, NIHR, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

العلاقة: https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9cTest; https://doi.org/10.1016/j.ajhg.2019.03.005Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.005Test
https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9cTest

المؤلفون: Wren, LM, Jiménez-Jáimez, J, Al-Ghamdi, S, Al-Aama, JY, Bdeir, A, Al-Hassnan, ZN, Kuan, JL, Foo, RY, Potet, F, Johnson, CN, Aziz, MC, Carvill, GL, Kaski, J-P, Crotti, L, Perin, F, Monserrat, L, Burridge, PW, Schwartz, PJ, Chazin, WJ, Bhuiyan, ZA, George, AL

المصدر: Circulation: Genomic and Precision Medicine , 12 (9) pp. 375-385. (2019)

مصطلحات موضوعية: arrhythmia, calmodulin, mosaicism, L-type Ca2+channel

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10081668/1/CIRCCVG2019002581%20Revised%20June%202019%20TRACKED-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081668/7/CIRCCVG2019002581%20Supplemental%20Information%20Revised%20June%202019-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081668Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10081668/1/CIRCCVG2019002581%20Revised%20June%202019%20TRACKED-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10081668/7/CIRCCVG2019002581%20Supplemental%20Information%20Revised%20June%202019-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10081668Test/

المؤلفون: Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr.

المساهمون: Wren, L, Jiménez-Jáimez, J, Al-Ghamdi, S, Al-Aama, J, Bdeir, A, Al-Hassnan, Z, Kuan, J, Foo, R, Potet, F, Johnson, C, Aziz, M, Carvill, G, Kaski, J, Crotti, L, Perin, F, Monserrat, L, Burridge, P, Schwartz, P, Chazin, W, Bhuiyan, Z, George AL, J

مصطلحات موضوعية: arrhythmia, calmodulin, genotype, long QT syndrome, mosaicism, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31454269; info:eu-repo/semantics/altIdentifier/wos/WOS:000490939600001; volume:12; issue:9; firstpage:375; lastpage:385; numberofpages:11; journal:CIRCULATION; http://hdl.handle.net/10281/281507Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072369078

الإتاحة: https://doi.org/10.1161/CIRCGEN.119.002581Test
http://hdl.handle.net/10281/281507Test

المؤلفون: Esterhuizen, AI, Carvill, GL, Ramesar, RS, Kariuki, SM, Newton, CR, Poduri, A, Wilmshurst, JM

العلاقة: https://ora.ox.ac.uk/objects/uuid:f8602c87-5136-4b12-ae5a-de79a3441193Test; https://doi.org/10.3389/fneur.2018.00276Test

الإتاحة: https://doi.org/10.3389/fneur.2018.00276Test
https://ora.ox.ac.uk/objects/uuid:f8602c87-5136-4b12-ae5a-de79a3441193Test

المؤلفون: Djemie, T, Weckhuysen, S, von Spiczak, S, Carvill, GL, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, HS, de Kovel, CG, Depienne, C, Gaily, E, Hamalainen, E, Giraldez, BG, Gormley, P, Guerrero-Lopez, R, Guerrini, R, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, BPC, Leguern, E, Lehesjoki, A-E, Lemke, JR, Leu, C, Marini, C, McMahon, JM, Mei, D, Moller, RS, Muhle, H, Myers, CT, Nava, C, Serratosa, JM, Sisodiya, SM, Stephani, U, Striano, P, van Kempen, MJA, Verbeek, NE, Usluer, S, Zara, F, Palotie, A, Mefford, HC, Scheffer, IE, De Jonghe, P, Helbig, I, Suls, A

العلاقة: pii: MGG3217; Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. -K., Brilstra, E., Caglayan, H. S., de Kovel, C. G., Depienne, C., Gaily, E., Hamalainen, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, C., Hernandez-Hernandez, L. ,. Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. MOLECULAR GENETICS & GENOMIC MEDICINE, 4 (4), pp.457-464. https://doi.org/10.1002/mgg3.217Test.; http://hdl.handle.net/11343/260070Test

الإتاحة: https://doi.org/10.1002/mgg3.217Test
http://hdl.handle.net/11343/260070Test