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1دورية أكاديمية
المؤلفون: Prins, BP, Mead, TJ, Brody, JA, Sveinbjornsson, G, Ntalla, I, Bihlmeyer, NA, van den Berg, M, Bork-Jensen, J, Cappellani, S, Van Duijvenboden, S, Klena, NT, Gabriel, GC, Liu, X, Gulec, C, Grarup, N, Haessler, J, Hall, LM, Iorio, A, Isaacs, A, Li-Gao, R, Lin, H, Liu, C-T, Lyytikäinen, L-P, Marten, J, Mei, H, Müller-Nurasyid, M, Orini, M, Padmanabhan, S, Radmanesh, F, Ramirez, J, Robino, A, Schwartz, M, van Setten, J, Smith, AV, Verweij, N, Warren, HR, Weiss, S, Alonso, A, Arnar, DO, Bots, ML, de Boer, RA, Dominiczak, AF, Eijgelsheim, M, Ellinor, PT, Guo, X, Felix, SB, Harris, TB, Hayward, C, Heckbert, SR, Huang, PL, Jukema, JW, Kähönen, M, Kors, JA, Lambiase, PD, Launer, LJ, Li, M, Linneberg, A, Nelson, CP, Pedersen, O, Perez, M, Peters, A, Polasek, O, Psaty, BM, Raitakari, OT, Rice, KM, Rotter, JI, Sinner, MF, Soliman, EZ, Spector, TD, Strauch, K, Thorsteinsdottir, U, Tinker, A, Trompet, S, Uitterlinden, A, Vaartjes, I, van der Meer, P, Völker, U, Völzke, H, Waldenberger, M, Wilson, JG, Xie, Z, Asselbergs, FW, Dörr, M, van Duijn, CM, Gasparini, P, Gudbjartsson, DF, Gudnason, V, Hansen, T, Kääb, S, Kanters, JK, Kooperberg, C, Lehtimäki, T, Lin, HJ, Lubitz, SA, Mook-Kanamori, DO, Conti, FJ, Newton-Cheh, CH, Rosand, J, Rudan, I, Samani, NJ, Sinagra, G, Smith, BH, Holm, H, Stricker, BH, Ulivi, S, Sotoodehnia, N, Apte, SS, van der Harst, P, Stefansson, K, Munroe, PB, Arking, DE, Lo, CW, Jamshidi, Y
مصطلحات موضوعية: ADAMTS6, Conduction, Exome chip, Meta-analysis
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/30012220Test; Genome Biology, 2018, 19:87; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-018-1457-6Test; http://hdl.handle.net/2381/44577Test
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2دورية أكاديميةExome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6
المؤلفون: Prins, BP, Mead, TJ, Brody, JA, Sveinbjornsson, G, Ntalla, I, Bihlmeyer, NA, van den Berg, Marten, Bork-Jensen, J, Cappellani, S, Van Duijvenboden, S, Klena, NT, Gabriel, GC, Liu, XQ, Gulec, C, Grarup, N, Haessler, J, Hall, LM, Iorio, A, Isaacs, Aaron, Li-Gao, RF, Lin, HH, Liu, CT, Lyytikainen, LP, Marten, J, Mei, H, Muller-Nurasyid, M, Orini, M, Padmanabhan, S, Radmanesh, F, Ramirez, J, Robino, A, Schwartz, M, van Setten, J, Smith, AV, Verweij, N, Warren, HR, Weiss, S, Alonso, A, Arnar, DO, Bots, ML, de Boer, RA, Dominiczak, AF, Eijgelsheim, Mark, Ellinor, PT, Guo, XQ, Felix, SB, Harris, TB, Hayward, C, Heckbert, SR, Huang, PL, Jukema, JW, Kahonen, M, Kors, Jan, Lambiase, PD, Launer, LJ, Li, M, Linneberg, A, Nelson, CP, Pedersen, O, Perez, M, Peters, A, Polasek, O, Psaty, BM, Raitakari, OT, Rice, KM, Rotter, JI, Sinner, MF, Soliman, EZ, Spector, TD, Strauch, K, Thorsteinsdottir, U, Tinker, A, Trompet, S, Uitterlinden, André, Vaartjes, I, Meer, P, Volker, U, Volzke, H, Waldenberger, M, Wilson, JG, Xie, ZJ, Asselbergs, FW, Dorr, M, Duijn, Cornelia, Gasparini, P, Gudbjartsson, DF, Gudnason, V, Hansen, T, Kaab, S, Kanters, JK, Kooperberg, C, Lehtimaki, T, Lin, H J, Lubitz, SA, Mook, Dennis, Conti, FJ, Newton-Cheh, CH, Rosand, J, Rudan, I, Samani, NJ, Sinagra, G, Smith, BH, Holm, H, Stricker, Bruno, Ulivi, S, Sotoodehnia, N, Apte, SS, van der Harst, P, Stefansson, K, Munroe, PB, Arking, DE, Lo, CW, Jamshidi, Y
المصدر: Prins , BP , Mead , TJ , Brody , JA , Sveinbjornsson , G , Ntalla , I , Bihlmeyer , NA , van den Berg , M , Bork-Jensen , J , Cappellani , S , Van Duijvenboden , S , Klena , NT , Gabriel , GC , Liu , XQ , Gulec , C , Grarup , N , Haessler , J , Hall , LM , Iorio , A , Isaacs , A , Li-Gao , RF , Lin , HH , Liu , CT , Lyytikainen , LP , Marten , J , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A, name=EMC MM-01-39-09-A, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402, name=EMC NIHES-01-64-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES037701, name=EMC NIHES-03-77-01
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13059-018-1457-6Test
https://pure.eur.nl/en/publications/209be647-ebf6-4719-96a4-8b2be2495d40Test
https://pure.eur.nl/ws/files/47936215/REPUB_109463-OA.pdfTest
http://hdl.handle.net/1765/109463Test -
3دورية أكاديمية
المؤلفون: Ross, JA, Webster, RG, Lechertier, T, Reynolds, LE, Turmaine, M, Bencze, M, Jamshidi, Y, Cetin, H, Muntoni, F, Beeson, D, Hodilvala-Dilke, K, Conti, FJ
المصدر: Journal of Cell Science , 130 (10) pp. 1772-1784. (2017)
مصطلحات موضوعية: Adhesion receptor, Synapse, Autophagy, Neurodegeneration, Ageing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10058819/1/1772.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10058819Test/
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4دورية أكاديمية
المؤلفون: Osborn, DPS, Pond, HL, Mazaheri, N, Dejardin, J, Munn, CJ, Mushref, K, Cauley, ES, Moroni, I, Pasanisi, MB, Sellars, EA, Hill, RS, Partlow, JN, Willaert, RK, Bharj, J, Malamiri, RA, Galehdari, H, Shariati, G, Maroofian, R, Mora, M, Swan, LE, Voit, T, Conti, FJ, Jamshidi, Y, Manzini, MC
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/108451/7/INPP5K%20AJHG.pdfTest; Osborn, DPS; Pond, HL; Mazaheri, N; Dejardin, J; Munn, CJ; Mushref, K; Cauley, ES; Moroni, I; Pasanisi, MB; Sellars, EA; et al. Osborn, DPS; Pond, HL; Mazaheri, N; Dejardin, J; Munn, CJ; Mushref, K; Cauley, ES; Moroni, I; Pasanisi, MB; Sellars, EA; Hill, RS; Partlow, JN; Willaert, RK; Bharj, J; Malamiri, RA; Galehdari, H; Shariati, G; Maroofian, R; Mora, M; Swan, LE; Voit, T; Conti, FJ; Jamshidi, Y; Manzini, MC (2017) Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. Am J Hum Genet, 100 (3). pp. 537-545. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2017.01.019Test SGUL Authors: Jamshidi, Yalda Osborn, Daniel Peter Sayer
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.01.019Test
https://openaccess.sgul.ac.uk/id/eprint/108451Test/
https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/108451/7/INPP5K%20AJHG.pdfTest -
5دورية أكاديمية
المؤلفون: Muggenthaler, M, Petropoulou, E, Omer, S, Simpson, MA, Sahak, H, Rice, A, Raju, H, Conti, FJ, Bridges, LR, Anderson, LJ, Sharma, S, Behr, ER, Jamshidi, Y
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/107736/7/IJC-D-15-05769R1.pdfTest; Muggenthaler, M; Petropoulou, E; Omer, S; Simpson, MA; Sahak, H; Rice, A; Raju, H; Conti, FJ; Bridges, LR; Anderson, LJ; et al. Muggenthaler, M; Petropoulou, E; Omer, S; Simpson, MA; Sahak, H; Rice, A; Raju, H; Conti, FJ; Bridges, LR; Anderson, LJ; Sharma, S; Behr, ER; Jamshidi, Y (2016) Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. International Journal of Cardiology, 210. pp. 41-44. https://doi.org/10.1016/j.ijcard.2016.02.082Test SGUL Authors: Behr, Elijah Raphael Jamshidi, Yalda Raju, Hariharan Sharma, Sanjay
الإتاحة: https://doi.org/10.1016/j.ijcard.2016.02.082Test
https://openaccess.sgul.ac.uk/id/eprint/107736Test/
https://openaccess.sgul.ac.uk/id/eprint/107736/7/IJC-D-15-05769R1.pdfTest -
6دورية أكاديمية
المؤلفون: Conti, FJ, Mook-Kanamori, DO, Newton-Cheh, CH, Rosand, J, Rudan, I, Samani, NJ, Sinagra, G, Smith, BH, Holm, H, Stricker, BH, Ulivi, S, Sotoodehnia, N, Apte, SS, van, der, Stefansson, K, Munroe, PB, Arking, DE, Lo, CW, Jamshidi, Y, Gulec, C, Prins, BP, Mead, TJ, Brody, JA, Sveinbjornsson, G, Ntalla, I, Bihlmeyer, NA, van, den, Bork-Jensen, J, Cappellani, S, Van, Duijvenboden, Klena, NT, Gabriel, GC, Liu, X, Grarup, N, Haessler, J, Hall, LM, Iorio, A, Isaacs, A, Li-Gao, R, Lin, H, Liu, CT, Lyytikäinen, LP, Marten, J, Mei, H, Müller-Nurasyid, M, Orini, M, Padmanabhan, S, Radmanesh, F, Ramirez, J, Robino, A, Schwartz, M, van, Setten, Smith, AV, Verweij, N, Warren, HR, Weiss, S, Alonso, A, Arnar, DO, Bots, ML, de, Boer, Dominiczak, AF, Eijgelsheim, M, Ellinor, PT, Guo, X, Felix, SB, Harris, TB, Hayward, C, Heckbert, SR, Huang, PL, Jukema, JW, Kähönen, M, Kors, JA, Lambiase, PD, Launer, LJ, Li, M, Linneberg, A, Nelson, CP, Pedersen, O, Perez, M, Peters, A, Polasek, O, Psaty, BM, Raitakari, OT, Rice, KM, Rotter, JI, Sinner, MF, Soliman, EZ, Spector, TD, Strauch, K, Thorsteinsdottir, U, Tinker, A, Trompet, S, Uitterlinden, A, Vaartjes, I, Völker, U, Völzke, H, Waldenberger, M, Wilson, JG, Xie, Z, Asselbergs, FW, Dörr, M, van, Duijn, Gasparini, P, Gudbjartsson, DF, Gudnason, V, Hansen, T, Kääb, S, Kanters, JK, Kooperberg, C, Lehtimäki, T, Lin, HJ, Lubitz, SA
المساهمون: 181252
العلاقة: Genome biology; Prins B., Mead T., Brody J., Sveinbjornsson G., Ntalla I., Bihlmeyer N., van d., Bork-Jensen J., Cappellani S., Van D., et al., "Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.", Genome biology, cilt.19, ss.87, 2018; vv_1032021; av_150870c7-54fe-4efa-92a8-792e725f1072; http://hdl.handle.net/20.500.12627/19524Test; https://doi.org/10.1186/s13059-018-1457-6Test; 19; 87
الإتاحة: https://doi.org/20.500.12627/19524Test
https://doi.org/10.1186/s13059-018-1457-6Test
https://hdl.handle.net/20.500.12627/19524Test -
7Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6
المؤلفون: Alonso A, Launer LJ, Klena NT, Psaty BM, Rice KM, de Boer RA, Dorr M, Jamshidi Y, Verweij N, Bork-Jensen J, van Duijn CM, Volzke H, Lambiase PD, Pedersen O, Xie ZJ, Smith BH, Sotoodehnia N, Padmanabhan S, Weiss S, Gudbjartsson DF, Mook-Kanamori DO, Strauch K, Radmanesh F, Stricker BH, Warren HR, Thorsteinsdottir U, Polasek O, Sinagra G, Felix SB, Gulec C, Munroe PB, Ntalla I, Rotter JI, Ulivi S, Isaacs A, Robino A, Bots ML, Apte SS, Lubitz SA, Hall LM, Kahonen M, Li M, Rosand J, Arking DE, Dominiczak AF, Muller-Nurasyid M, Waldenberger M, Schwartz M, Rudan I, Cappellani S, Jukema JW, Spector TD, Iorio A, Trompet S, Stefansson K, Mead TJ, Newton-Cheh CH, Prins BP, Smith AV, Bihlmeyer NA, van der Harst P, Conti FJ, Eijgelsheim M, Sinner MF, Liu XQ, Gudnason V, Mei H, Peters A, Ellinor PT, Kors JA, Perez M, Lyytikainen LP, Lehtimaki T, Kaab S, Vaartjes I, Raitakari OT, Kanters JK, Gabriel GC, Guo XQ, Soliman EZ, Grarup N, Li-Gao RF, Kooperberg C, Lin HJ, Haessler J, Holm H, Nelson CP, Volker U, Tinker A, Lin HH, Uitterlinden A, Harris TB, Arnar DO, Heckbert SR, van den Berg M, van Setten J, Asselbergs FW, Marten J, Hansen T, Gasparini P, Van Duijvenboden S, Ramirez J, Hayward C, Samani NJ, Wilson JG, Sveinbjornsson G, Brody JA, van der Meer P, Linneberg A, Huang PL, Lo CW, Orini M, Liu CT
المساهمون: sydäntutkimuskeskus, Research Centre of Applied and Preventive Cardiovascular Medicine (CAPC), tyks, vsshp, tyks, vsshp, 2607004
العلاقة: 19; ARTN 87; Genome Biology; https://www.utupub.fi/handle/10024/164013Test; URN:NBN:fi-fe2021042719785
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8دورية أكاديمية
المؤلفون: Conti, FJ, Monkley, SJ, Wood, MR, Critchley, DR, Müller, U
المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmedTest/
مصطلحات موضوعية: Animals, Cell Fusion, Cytoskeleton, Integrins, Mice, Knockout, Muscle, Skeletal, Muscular Diseases, Sarcomeres, Talin
وصف الملف: metadata
العلاقة: DEVELOPMENT, 2009, 136 (21), pp. 3597-3606; http://hdl.handle.net/2381/14352Test; dev.035857
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9رسالة جامعية
المؤلفون: Ross, AJ
المساهمون: Conti, FJ
المصدر: Doctoral thesis, UCL (University College London).
مصطلحات موضوعية: Neuroscience, neuromuscular, synapse, muscle, adhesion, extracellular matrix, basal lamina, neurotransmission, synaptogenesis, synaptic vesicle, development
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1471753/1/Jacob%20Ross%20final%20THESIS%20229%20FINAL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1471753Test/
النص الكامل