المؤلفون: Robinson, A, Partridge, D, Malhas, A, De Castro, SCP, Gustavsson, P, Thompson, DN, Vaux, DJ, Copp, AJ, Stanier, P, Bassuk, AG, Greene, NDE

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 97(6):398-402

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Klinisk medicin, Neurologi

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:126877642Test

المؤلفون: Hildebrand, JM, Kauppi, M, Majewski, IJ, Liu, Z, Cox, AJ, Miyake, S, Petrie, EJ, Silk, MA, Li, Z, Tanzer, MC, Brumatti, G, Young, SN, Hall, C, Garnish, SE, Corbin, J, Stutz, MD, Di Rago, L, Gangatirkar, P, Josefsson, EC, Rigbye, K, Anderton, H, Rickard, JA, Tripaydonis, A, Sheridan, J, Scerri, TS, Jackson, VE, Czabotar, PE, Zhang, J-G, Varghese, L, Allison, CC, Pellegrini, M, Tannahill, GM, Hatchell, EC, Willson, TA, Stockwell, D, de Graaf, CA, Collinge, J, Hilton, A, Silke, N, Spall, SK, Chau, D, Athanasopoulos, V, Metcalf, D, Laxer, RM, Bassuk, AG, Darbro, BW, Singh, MAF, Vlahovich, N, Hughes, D, Kozlovskaia, M, Ascher, DB, Warnatz, K, Venhoff, N, Thiel, J, Biben, C, Blum, S, Reveille, J, Hildebrand, MS, Vinuesa, CG, McCombe, P, Brown, MA, Kile, BT, McLean, C, Bahlo, M, Masters, SL, Nakano, H, Ferguson, PJ, Murphy, JM, Alexander, WS, Silke, J

العلاقة: NHMRC/1072476; pii: 10.1038/s41467-020-16819-z; Hildebrand, J. M., Kauppi, M., Majewski, I. J., Liu, Z., Cox, A. J., Miyake, S., Petrie, E. J., Silk, M. A., Li, Z., Tanzer, M. C., Brumatti, G., Young, S. N., Hall, C., Garnish, S. E., Corbin, J., Stutz, M. D., Di Rago, L., Gangatirkar, P., Josefsson, E. C. ,. Silke, J. (2020). A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. NATURE COMMUNICATIONS, 11 (1), https://doi.org/10.1038/s41467-020-16819-zTest.; http://hdl.handle.net/11343/244488Test

الإتاحة: https://doi.org/10.1038/s41467-020-16819-zTest
http://hdl.handle.net/11343/244488Test

المؤلفون: Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB

المصدر: Clinical Ophthalmology, Vol 2016, Iss Issue 1, Pp 1187-1197 (2016)

مصطلحات موضوعية: ADNIV, CAPN5, calpain-5, Fluocinolone Acetonide, Secondary Glaucoma, Uveitis., Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/secondary-glaucoma-in-capn5-associated-neovascular-inflammatory-vitreo-peer-reviewed-article-OPTHTest; https://doaj.org/toc/1177-5483Test

الوصول الحر: https://doaj.org/article/0a9207be1b6a43b7b334aaf7a0e786d8Test

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

المؤلفون: Rowell HA, Bassuk AG, Mahajan VB

المصدر: Clinical Ophthalmology, Vol 2012, Iss default, Pp 2037-2044 (2012)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/monozygotic-twins-with-capn5-autosomal-dominant-neovascular-inflammato-a11696Test; https://doaj.org/toc/1177-5467Test; https://doaj.org/toc/1177-5483Test

الوصول الحر: https://doaj.org/article/dd59f4c5893d448db3aed0856a808c94Test

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

العلاقة: 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.1005022Test.; http://hdl.handle.net/11343/260096Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005022Test
http://hdl.handle.net/11343/260096Test

المؤلفون: Safra, N, Bassuk, AG, Ferguson, PJ, Aguilar, M, Coulson, RL, Thomas, N, Hitchens, PL, Dickinson, PJ, Vernau, KM, Wolf, ZT, Bannasch, DL

المساهمون: Leeb, T

العلاقة: pii: PGENETICS-D-13-00878; Safra, N., Bassuk, A. G., Ferguson, P. J., Aguilar, M., Coulson, R. L., Thomas, N., Hitchens, P. L., Dickinson, P. J., Vernau, K. M., Wolf, Z. T. & Bannasch, D. L. (2013). Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans. PLOS GENETICS, 9 (7), https://doi.org/10.1371/journal.pgen.1003646Test.; http://hdl.handle.net/11343/257349Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1003646Test
http://hdl.handle.net/11343/257349Test

المؤلفون: Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet LT, Loddo S, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG, VALENTE, Enza Maria

المساهمون: Darbro, Bw, Mahajan, Vb, Gakhar, L, Skeie, Jm, Campbell, E, Wu, S, Bing, X, Millen, Kj, Dobyns, Wb, Kessler, Ja, Jalali, A, Cremer, J, Segre, A, Manak, Jr, Aldinger, Ka, Suzuki, S, Natsume, N, Ono, M, Hai, Hd, Viet, Lt, Loddo, S, Valente, Enza Maria, Bernardini, L, Ghonge, N, Ferguson, Pj, Bassuk, Ag

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23674478; info:eu-repo/semantics/altIdentifier/wos/000321759900005; volume:34; firstpage:1075; lastpage:1079; journal:HUMAN MUTATION; http://hdl.handle.net/11386/4025858Test

الإتاحة: http://hdl.handle.net/11386/4025858Test

المؤلفون: Kibar, Z, Salem, S, Bosoi, CM, Pauwels, E, De Marco, P, Merello, E, Bassuk, AG, Capra, V, Gros, P

المصدر: Clinical Genetics ; volume 80, issue 1, page 76-82 ; ISSN 0009-9163

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01515.xTest

المؤلفون: Jalali, A, Aldinger, KA, Chary, A, Mclone, DG, Bowman, RM, Le, LC, Jardine, PE, Newbury-Ecob, RA, Mallick, AA, Jafari, N, Russell, EJ, Curran, J, Nguyen, P, Ouahchi, K, Lee, C, Dobyns, WB, Millen, KJ, Pina-Neto, JM, Kessler, JA, Bassuk, AG

المصدر: Jalali , A , Aldinger , KA , Chary , A , Mclone , DG , Bowman , RM , Le , LC , Jardine , PE , Newbury-Ecob , RA , Mallick , AA , Jafari , N , Russell , EJ , Curran , J , Nguyen , P , Ouahchi , K , Lee , C , Dobyns , WB , Millen , KJ , Pina-Neto , JM , Kessler , JA & Bassuk , AG 2008 , ' Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity ....

العلاقة: https://research-information.bris.ac.uk/en/publications/d482fcf5-4c97-4489-8330-1137eee1b2afTest

الإتاحة: https://doi.org/10.1007/s00439-008-0467-yTest
https://hdl.handle.net/1983/d482fcf5-4c97-4489-8330-1137eee1b2afTest
https://research-information.bris.ac.uk/en/publications/d482fcf5-4c97-4489-8330-1137eee1b2afTest