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

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

المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Allan, TJ, Zalusky, MP-G, Goffena, J, Gibson, SB, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, MN, 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, Gupta, S, Jones, EA, Weisz-Hubshman, M, 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

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/350134
NHMRC/1172897
NHMRC/2006841
NHMRC/2010562

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

Relation: 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.0000000000000579.; http://hdl.handle.net/11343/278143

الاتاحة: http://hdl.handle.net/11343/278143

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10121820/1/Bhatia_140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf; https://discovery.ucl.ac.uk/id/eprint/10121820/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10121820/1/Bhatia_140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf
https://discovery.ucl.ac.uk/id/eprint/10121820/

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

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/339796

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

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/343960
NHMRC/1172897
NHMRC/2010562

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

Relation: https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9c; https://doi.org/10.1016/j.ajhg.2019.03.005

الاتاحة: https://doi.org/10.1016/j.ajhg.2019.03.005
https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9c

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

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

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

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

Relation: 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/10281/281507; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072369078

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

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

Relation: https://ora.ox.ac.uk/objects/uuid:f8602c87-5136-4b12-ae5a-de79a3441193; https://doi.org/10.3389/fneur.2018.00276

الاتاحة: https://doi.org/10.3389/fneur.2018.00276
https://ora.ox.ac.uk/objects/uuid:f8602c87-5136-4b12-ae5a-de79a3441193

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

Relation: 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/mgg3.217.; http://hdl.handle.net/11343/260070

الاتاحة: http://hdl.handle.net/11343/260070

المؤلفون: Paemka, L, Mahajan, VB, Ehaideb, SN, Skeie, JM, Tan, MC, Wu, S, Cox, AJ, Sowers, LP, Gecz, J, Jolly, L, Ferguson, PJ, Darbro, B, Schneider, A, Scheffer, IE, Carvill, GL, Mefford, HC, El-Shanti, H, Wood, SA, Manak, JR, Bassuk, AG

المساهمون: Frankel, WN

Relation: NHMRC/628952; pii: PGENETICS-D-15-00073; Paemka, L., Mahajan, V. B., Ehaideb, S. N., Skeie, J. M., Tan, M. C., Wu, S., Cox, A. J., Sowers, L. P., Gecz, J., Jolly, L., Ferguson, P. J., Darbro, B., Schneider, A., Scheffer, I. E., Carvill, G. L., Mefford, H. C., El-Shanti, H., Wood, S. A., Manak, J. R. & Bassuk, A. G. (2015). Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase. PLOS GENETICS, 11 (3), https://doi.org/10.1371/journal.pgen.1005022.; http://hdl.handle.net/11343/260096

الاتاحة: http://hdl.handle.net/11343/260096

المؤلفون: Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, Mefford, HC

Relation: pii: NG2015000240; Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., Leventer, R. J., Harvey, A. S., Mullen, S. A., Berkovic, S. F., Sullivan, J., Scheffer, I. E. & Mefford, H. C. (2015). Epileptic spasms are a feature of DEPDC5 mTORopathy. NEUROLOGY-GENETICS, 1 (2), https://doi.org/10.1212/NXG.0000000000000016.; http://hdl.handle.net/11343/258994

الاتاحة: http://hdl.handle.net/11343/258994

المؤلفون: Carvill, GL, Jansen, S, Lacroix, A, Zemel, M, Mehaffey, M, De Vries, P, Brunner, HG, Scheffer, IE, De Vries, BBA, Vissers, LELM, Mefford, HC

Relation: Carvill, G. L., Jansen, S., Lacroix, A., Zemel, M., Mehaffey, M., De Vries, P., Brunner, H. G., Scheffer, I. E., De Vries, B. B. A., Vissers, L. E. L. M. & Mefford, H. C. (2021). Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 63 (12), pp.1441-1447. https://doi.org/10.1111/dmcn.14989.; http://hdl.handle.net/11343/298733

الاتاحة: http://hdl.handle.net/11343/298733

المؤلفون: Spinelli, E, Christensen, KR, Bryant, E, Schneider, A, Rakotomamonjy, J, Muir, AM, Giannelli, J, Littlejohn, RO, Roeder, ER, Schmidt, B, Wilson, WG, Marco, EJ, Iwama, K, Kumada, S, Pisano, T, Barba, C, Vetro, A, Brilstra, EH, Jaarsveld, RH, Matsumoto, N, Goldberg-Stern, H, Carney, PW, Andrews, PI, El Achkar, CM, Berkovic, S, Rodan, LH, McWalter, K, Guerrini, R, Scheffer, IE, Mefford, HC, Mandelstam, S, Laux, L, Millichap, JJ, Guemez-Gamboa, A, Nairn, AC, Carvill, GL

Relation: Spinelli, E., Christensen, K. R., Bryant, E., Schneider, A., Rakotomamonjy, J., Muir, A. M., Giannelli, J., Littlejohn, R. O., Roeder, E. R., Schmidt, B., Wilson, W. G., Marco, E. J., Iwama, K., Kumada, S., Pisano, T., Barba, C., Vetro, A., Brilstra, E. H., Jaarsveld, R. H. ,. Carvill, G. L. (2021). Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. ANNALS OF NEUROLOGY, 90 (2), pp.274-284. https://doi.org/10.1002/ana.26147.; http://hdl.handle.net/11343/298741

الاتاحة: http://hdl.handle.net/11343/298741

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, A, 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, TC, Wood, NW, Krainc, D, Acuna, C

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/112922/6/140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf; Mencacci, NE; Brockmann, MM; Dai, J; Pajusalu, S; Atasu, B; Campos, J; Pino, G; Gonzalez-Latapi, P; Patzke, C; Schwake, M; et al. 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, A; 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, TC; Wood, NW; Krainc, D; Acuna, C (2021) Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J Clin Invest, 131 (7). e140625. ISSN 1558-8238 https://doi.org/10.1172/JCI140625 SGUL Authors: Pittman, Alan Michael

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112922/
https://openaccess.sgul.ac.uk/id/eprint/112922/6/140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf

المؤلفون: Martin, HC, Kim, GE, Pagnamenta, AT, Murakami, Y, Carvill, GL, Meyer, E, Copley, RR, Rimmer, A, Barcia, G, Fleming, MR, Kronengold, J, Brown, MR, Hudspith, KA, Broxholme, J, Kanapin, A, Cazier, J-B, Kinoshita, T, Nabbout, R, Bentley, D, McVean, G, Heavin, S, Zaiwalla, Z, McShane, T, Mefford, HC, Shears, D, Stewart, H, Kurian, MA, Scheffer, IE, Blair, E, Donnelly, P, Kaczmarek, LK, Taylor, JC

Relation: pii: ddu030; Martin, H. C., Kim, G. E., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., Kronengold, J., Brown, M. R., Hudspith, K. A., Broxholme, J., Kanapin, A., Cazier, J. -B., Kinoshita, T., Nabbout, R., Bentley, D. ,. Taylor, J. C. (2014). Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. HUMAN MOLECULAR GENETICS, 23 (12), pp.3200-3211. https://doi.org/10.1093/hmg/ddu030.; http://hdl.handle.net/11343/55016

الاتاحة: http://hdl.handle.net/11343/55016

المؤلفون: Carvill, GL, Helbig, KL, Myers, CT, Scala, M, Huether, R, Lewis, S, Kruer, TN, Guida, BS, Bakhtiari, S, Sebe, J, Tang, S, Stickney, H, Oktay, SU, Bhandiwad, AA, Ramsey, K, Narayanan, V, Feyma, T, Rohena, LO, Accogli, A, Severino, M, Hollingsworth, G, Gill, D, Depienne, C, Nava, C, Sadleir, LG, Caruso, PA, Lin, AE, Jansen, FE, Koeleman, B, Brilstra, E, Willemsen, MH, Kleefstra, T, Sa, J, Mathieu, M-L, Perrin, L, Lesca, G, Striano, P, Casari, G, Scheffer, IE, Raible, D, Sattlegger, E, Capra, V, Padilla-Lopez, S, Mefford, HC, Kruer, MC

Relation: Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A. ,. Kruer, M. C. (2020). Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. HUMAN MUTATION, 41 (7), pp.1263-1279. https://doi.org/10.1002/humu.24015.; http://hdl.handle.net/11343/275604

الاتاحة: http://hdl.handle.net/11343/275604

المؤلفون: Julie Panetta, Ingrid E. Scheffer, Anna Rosati, Amy McTague, Richard H Scott, Renzo Guerrini, Carmen Barba, Heather C. Mefford, Chloe A Stutterd, Carvill Gl, John Nguyen, Kenneth A. Myers, Thorsten Stanley, Samantha Marin, Carla Marini

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Sleep disorder, Ataxia, business.industry, Status epilepticus, medicine.disease, Article, Epilepsy, Neurodevelopmental disorder, Intellectual disability, Epilepsy syndromes, medicine, Neurology (clinical), medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb948b88c9fce606a84f03aa30a4a2d8
https://doi.org/10.1212/nxg.0000000000000579

المؤلفون: 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, 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.

مصطلحات الفهرس: arrhythmia, calmodulin, genotype, long QT syndrome, mosaicism, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/281507
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