المؤلفون: Al-Aama JY, Al Mahdi HB, Salama MA, Bakur KH, Alhozali A, Mosli HH, Bahijri SM, Bahieldin A, Willmitzer L, Edris S

المصدر: Diabetes, Metabolic Syndrome and Obesity, Vol Volume 12, Pp 2675-2684 (2019)

مصطلحات موضوعية: glucagon signaling, glycine production, bile secretion, insulin sensitivity/resistance, Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/detection-of-secondary-metabolites-as-biomarkers-for-the-early-diagnos-peer-reviewed-article-DMSOTest; https://doaj.org/toc/1178-7007Test

الوصول الحر: https://doaj.org/article/79189e4935ce49fea4c9ae4666182588Test

المؤلفون: Kohonen-Corish, MRJ, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Beroud, C, Burn, J, Cunningham, F, Cutting, GR, den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Moslein, G, Povey, S, Ramesar, R, Richards, S, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RGH

المصدر: Human mutation. 31(12):1374-1381

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121937048Test

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: Mohamoud, HS, Ahmed, S, Jelani, M, Alrayes, N, Childs, K, Vadgama, N, Almramhi, MM, Al-Aama, JY, Goodbourn, S, Nasir, J

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109567/7/s41598-018-20658-w.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109567/1/Hussein%20Sheikh%20Mohamoud%20et%20al.pdfTest; Mohamoud, HS; Ahmed, S; Jelani, M; Alrayes, N; Childs, K; Vadgama, N; Almramhi, MM; Al-Aama, JY; Goodbourn, S; Nasir, J (2018) A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. Sci Rep, 8 (1). p. 2053. ISSN 2045-2322 https://doi.org/10.1038/s41598-018-20658-wTest SGUL Authors: Childs, Kay Samantha Goodbourn, Stephen Edward

الإتاحة: https://doi.org/10.1038/s41598-018-20658-wTest
https://openaccess.sgul.ac.uk/id/eprint/109567Test/
https://openaccess.sgul.ac.uk/id/eprint/109567/7/s41598-018-20658-w.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/109567/1/Hussein%20Sheikh%20Mohamoud%20et%20al.pdfTest

المؤلفون: Bouslam, N, Kayserili, H, Al-Aama, JY, Abdel-Salam, GMH, Silhavy, JL, Mansour, L, Scott, E, Karminejad, A, Kara, M, Bozorgmehri, B, Ben-Omran, T, Mojahedi, F, El, Din, Bouhouche, A, Benomar, A, Mascaro, M, Selim, L, Kara, BÜLENT, Rosti, B, Shehata, N, Al-Allawi, N, Bindu, PS, Azam, M, Gunel, M, Caglayan, A, Bilguvar, K, Tolun, A, Issa, MY, Schroth, J, Spencer, EG, Novarino, G, Fenstermaker, AG, Zaki, MS, Hofree, M, Heiberg, AD, Abdellateef, M, Ideker, T, Gabriel, SB, Rosti, RO, Stevanin, G, Brice, A, Durr, A, Megahed, H, Koh, AA, Johansen, A, Vaux, KK, Akizu, N, Hanein, S, Masri, A, Raymond, L, Gleeson, JG, Forlani, S

العلاقة: ae69e19e-676d-4a2a-819a-be1fd9d866de; https://avesis.kocaeli.edu.tr/publication/details/ae69e19e-676d-4a2a-819a-be1fd9d866de/oaiTest

الإتاحة: https://doi.org/10.1126/science.1247363Test
https://avesis.kocaeli.edu.tr/publication/details/ae69e19e-676d-4a2a-819a-be1fd9d866de/oaiTest

المؤلفون: Jiang, Yan, Habibollah, Saba, Tilgner, Katarzyna, Collin, Joseph, Barta, Tomas, Al-Aama, Jumana Yousuf, Tesarov, Lenka, Hussain, Rafiqul, Trafford, Andrew W., Kirkwood, Graham, Sernagor, Evelyne, Eleftheriou, Cyril G., Przyborski, Stefan, Stojkovi, Miodrag, Lako, Majlinda, Keavney, Bernard, Armstrong, Lyle, Jiang, Y1, Al-Aama, JY, Trafford, AW, Eleftheriou, CG, Stojković, M

المصدر: Jiang , Y , Habibollah , S , Tilgner , K , Collin , J , Barta , T , Al-Aama , J Y , Tesarov , L , Hussain , R , Trafford , A W , Kirkwood , G , Sernagor , E , Eleftheriou , C G , Przyborski , S , Stojkovi , M , Lako , M , Keavney , B , Armstrong , L , Jiang , Y , Al-Aama , JY , Trafford , AW , Eleftheriou , CG & Stojković , M 2014 , ' An induced pluripotent stem cell model ....

مصطلحات موضوعية: Cardiac development, Cardiac myocytes, Hypoplastic left heart syndrome, Induced pluripotent stem cells, Pluripotent stem cell differentiation

الإتاحة: https://doi.org/10.5966/sctm.2013-0105Test
https://research.manchester.ac.uk/en/publications/d80479a9-d396-414d-bd51-cc080c40d6bfTest
http://stemcellstm.alphamedpress.org/content/3/4/416.full.pdf+htmlTest

المؤلفون: Alamoudi, NM, Sabbagh, H J, Innes, NPT, El Derwi, D, Hanno, AZ, Al-Aama, JY, Habiballah, A H, Mossey, P A

المصدر: Alamoudi , NM , Sabbagh , H J , Innes , NPT , El Derwi , D , Hanno , AZ , Al-Aama , JY , Habiballah , A H & Mossey , P A 2014 , ' Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity ' , Journal of Clinical Pediatric Dentistry , vol. 38 , no. 3 , pp. 241-246 . https://doi.org/10.17796/jcpd.38.3.bm4m2158v17p2535Test

مصطلحات موضوعية: cleft lip, Cleft palate, consanguinity, orofacial cleft, Prevalence, Saudi Arabia, /dk/atira/pure/subjectarea/asjc/2700/2735, name=Pediatrics, Perinatology, and Child Health, /dk/atira/pure/subjectarea/asjc/3500/3500, name=General Dentistry

العلاقة: https://discovery.dundee.ac.uk/en/publications/cd7033d5-a694-4f41-a6d3-00d43d8edaa8Test

الإتاحة: https://doi.org/10.17796/jcpd.38.3.bm4m2158v17p2535Test
https://discovery.dundee.ac.uk/en/publications/cd7033d5-a694-4f41-a6d3-00d43d8edaa8Test
http://www.scopus.com/inward/record.url?scp=84905014070&partnerID=8YFLogxKTest

المؤلفون: Al‐Owain, M, Imtiaz, F, Shuaib, T, Edrees, A, Al‐Amoudi, M, Sakati, N, Al‐Hassnan, Z, Bamashmous, H, Rahbeeni, Z, Al‐Ameer, S, Faqeih, E, Meyer, B, Al‐Hashem, A, Garout, W, Al‐Odaib, A, Rashed, M, Al‐Aama, JY

المصدر: Clinical Genetics ; volume 82, issue 2, page 165-172 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2011.01742.xTest

المؤلفون: Kaput, J, Cotton, RGH, Hardman, L, Watson, M, Al Aqeel, AI, Al-Aama, JY, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, AD, Bapat, B, Bernstein, IT, Bhak, J, Bleoo, SL, Bloecker, H, Brenner, SE, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, YS, Chung, Y-J, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, JT, Diaz, C, Dobrowolski, S, dos Santos, MRN, Ekong, R, Flanagan, SB, Flicek, P, Furukawa, Y, Genuardi, M, Ghang, H, Golubenko, MV, Greenblatt, MS, Hamosh, A, Hancock, JM, Hardison, R, Harrison, TM, Hoffmann, R, Horaitis, R, Howard, HJ, Barash, CI, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y-S, Lee, J-Y, Gil-da-Silva-Lopes, VL, Macrae, FA, Maglott, D, Marafie, MJ, Marsh, SGE, Matsubara, Y, Messiaen, LM, Moeslein, G, Netea, MG, Norton, ML, Oefner, PJ, Oetting, WS, O'Leary, JC, Oller de Ramirez, AM, Paalman, MH, Parboosingh, J, Patrinos, GP, Perozzi, G, Phillips, IR, Povey, S, Prasad, S, Qi, M, Quin, DJ, Ramesar, RS, Richards, CS, Savige, J, Scheible, DG, Scott, RJ, Seminara, D, Shephard, EA, Sijmons, RH, Smith, TD, Sobrido, M-J, Tanaka, T, Tavtigian, SV, Taylor, GR, Teague, J, Toepel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, HJ, Vihinen, M, Webb, E, Weber, TK, Yeager, M, Yeom, YI, Yim, S-H, Yoo, H-S

العلاقة: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000265006400002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest; Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Bloecker, H., Brenner, S. E., Burn, J., Bustamante, M., Calone, R. ,. Yoo, H. -S. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30 (4), pp.496-510. https://doi.org/10.1002/humu.20972Test.; http://hdl.handle.net/11343/43973Test

الإتاحة: https://doi.org/10.1002/humu.20972Test
http://hdl.handle.net/11343/43973Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000265006400002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest