المؤلفون: Alfadhel M, Al Mutairi F, Makhseed N, Al Jasmi F, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T

المصدر: Therapeutics and Clinical Risk Management, Vol 2016, Iss Issue 1, Pp 479-487 (2016)

مصطلحات موضوعية: Hyperammonemia, Inborn errors of metabolism, Urea cycle, Acute management, Ammonia, Middle East., Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/guidelines-for-acute-management-of-hyperammonemia-in-the-middle-east-r-peer-reviewed-article-TCRMTest; https://doaj.org/toc/1178-203XTest

الوصول الحر: https://doaj.org/article/2a84df0beca7414d95ced02de0228e02Test

المؤلفون: Van Gucht, I, Meester, JAN, Bento, JR, Bastiaansen, M, Bastianen, J, Luyckx, I, Van Den Heuvel, L, Neutel, CHG, Guns, PJ, Vermont, M, Fransen, E, Perik, MHAM, Velchev, JD, Alaerts, M, Schepers, D, Peeters, S, Pintelon, I, Almesned, A, Ferla, MP, Taylor, JC, Dallosso, AR, Williams, M, Evans, J, Rosenfeld, JA, Sluysmans, T, Rodrigues, D, Chikermane, A, Bharmappanavara, G, Vijayakumar, K, Mottaghi Moghaddam Shahri, H, Hashemi, N, Torbati, PN, Toosi, MB, Al-Hassnan, ZN, Vogt, J, Revencu, N, Maystadt, I, Miller, EM, Weaver, KN, Begtrup, A, Houlden, H, Murphy, D, Maroofian, R, Pagnamenta, AT, Van Laer, L, Loeys, BL, Verstraeten, A

المصدر: American Journal of Human Genetics , 108 (6) pp. 1115-1125. (2021)

مصطلحات موضوعية: TGF-beta, thoracic aortic aneurysm, Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, importin 8, knockout mouse model

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158793/1/A%20human%20importin%20related%20disorder.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158793Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158793/1/A%20human%20importin%20related%20disorder.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158793Test/

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: Crotti, L, Spazzolini, C, Tester, DJ, Ghidoni, A, Baruteau, A-E, Beckmann, B-M, Behr, ER, Bennett, JS, Bezzina, CR, Bhuiyan, ZA, Celiker, A, Cerrone, M, Dagradi, F, De Ferrari, GM, Etheridge, SP, Fatah, M, Garcia-Pavia, P, Al-Ghamdi, S, Hamilton, RM, Al-Hassnan, ZN, Horie, M, Jimenez-Jaimez, J, Kanter, RJ, Kaski, JP, Kotta, M-C, Lahrouchi, N, Makita, N, Norrish, G, Odland, HH, Ohno, S, Papagiannis, J, Parati, G, Sekarski, N, Tveten, K, Vatta, M, Webster, G, Wilde, AAM, Wojciak, J, George, AL, Ackerman, MJ, Schwartz, PJ

المصدر: European Heart Journal , 40 (35) pp. 2964-2975. (2019)

مصطلحات موضوعية: Calmodulin, Cathecolaminergic polymorphic ventricular tachycardia, Idiopathic ventricular fibrillation, Long QT syndrome, Sudden death

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10077206/3/Norrish_Calmodulin%20mutations%20and%20life-threatening%20cardiac%20arrhythmias_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10077206Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10077206/3/Norrish_Calmodulin%20mutations%20and%20life-threatening%20cardiac%20arrhythmias_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10077206Test/

المؤلفون: Al-Allaf, FA, Abduljaleel, Z, Athar, M, Taher, MM, Khan, W, Mehmet, H, Colakogullari, M, Apostolidou, S, Bigger, B, Waddington, S, Coutelle, C, Themis, M, Al-Ahdal, MN, Al-Mohanna, FA, Al-Hassnan, ZN, Bouazzaoui, A

المصدر: Non-coding RNA Research , 4 (1) pp. 1-14. (2019)

مصطلحات موضوعية: Internal ribosome entry site, IRES, Gene therapy, Inter-cistronic sequences, MD simulation, Protein structure modeling, Familial hypercholesterolemia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10070696/1/1-s2.0-S246805401830088X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10070696Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10070696/1/1-s2.0-S246805401830088X-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10070696Test/

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: Al-Allaf, FA, Abduljaleel, Z, Athar, M, Taher, MM, Khan, W, Mehmet, H, Colakogullari, M, Apostolidou, S, Bigger, B, Waddington, S, Coutelle, C, Themis, M, Al-Ahdal, MN, Al-Mohanna, FA, Al-Hassnan, ZN, Bouazzaoui, A

مصطلحات موضوعية: Internal ribosome entry site, IRES, Gene therapy, Inter-cistronic sequences, MD simulation, Protein structure modeling, Familial hypercholesterolemia

وصف الملف: 1 - 14

العلاقة: Non-coding RNA Research; Non-coding RNA Research, 2018, 4 (1), pp. 1 - 14; http://dx.doi.org/10.1016/j.ncrna.2018.11.005Test; http://bura.brunel.ac.uk/handle/2438/17814Test

الإتاحة: https://doi.org/10.1016/j.ncrna.2018.11.005Test
http://bura.brunel.ac.uk/handle/2438/17814Test

المؤلفون: Shinwari, ZMA, Al‐Hazzani, A, Dzimiri, N, Tulbah, S, Mallawi, Y, Al‐Fayyadh, M, Al‐Hassnan, ZN

المصدر: Clinical Genetics ; volume 83, issue 4, page 370-374 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01914.xTest

المؤلفون: Shaheen, R, Al-Dirbashi, OY, Al-Hassnan, ZN, Al-Owain, M, Makhsheed, N, Basheeri, F, Seidahmed, MZ, Salih, MAM, Faqih, E, Zaidan, H, Al-Sayed, M, Rahbeeni, Z, Al-Sheddi, T, Hashem, M, Kurdi, W, Shimozawa, N, Alkuraya, FS

المصدر: Clinical Genetics ; volume 79, issue 1, page 60-70 ; ISSN 0009-9163

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01498.xTest