-
1دورية أكاديمية
المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM
المصدر: American journal of human genetics. 104(3):530-541
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Le, TL, Galmiche, L, Levy, J, Suwannarat, P, Hellebrekers, DM, Morarach, K, Boismoreau, F, Theunissen, TEJ, Lefebvre, M, Pelet, A, Martinovic, J, Gelot, A, Guimiot, F, Calleroz, A, Gitiaux, C, Hully, M, Goulet, O, Chardot, C, Drunat, S, Capri, Y, Bole-Feysot, C, Nitschke, P, Whalen, S, Mouthon, L, Babcock, HE, Hofstra, R, de Coo, IFM, Tabet, AC, Molina, TJ, Keren, B, Brooks, A, Smeets, HJM, Marklund, U, Gordon, CT, Lyonnet, S, Amiel, J, Bondurand, N
المصدر: The Journal of clinical investigation. 131(6)
مصطلحات موضوعية: Medicin och hälsovetenskap
-
3دورية أكاديمية
المؤلفون: Gordon, CT, Weaver, KN, Zechi-Ceide, RM, Madsen, EC, Tavares, ALP, Oufadem, M, Kurihara, Y, Adameyko, I, Picard, A, Breton, S, Pierrot, S, Biosse-Duplan, M, Voisin, N, Masson, C, Bole-Feysot, C, Nitschke, P, Delrue, MA, Lacombe, D, Guion-Almeida, ML, Moura, PP, Garib, DG, Munnich, A, Ernfors, P, Hufnagel, RB, Hopkin, RJ, Kurihara, H, Saal, HM, Weaver, DD, Katsanis, N, Lyonnet, S, Golzio, C, Clouthier, DE, Amiel, J
المصدر: American journal of human genetics. 96(4):519-531
مصطلحات موضوعية: Medicin och hälsovetenskap
-
4دورية أكاديمية
المؤلفون: Gordon, CT, Jimenez‐Fernandez, S, Daniels, LB, Kahn, AM, Tarsa, M, Matsubara, T, Shimizu, C, Burns, JC, Gordon, JB
المصدر: BJOG An International Journal of Obstetrics & Gynaecology. 121(11)
مصطلحات موضوعية: Pediatric, Cardiovascular, Clinical Research, Heart Disease, Contraception/Reproduction, Reproductive health and childbirth, Good Health and Well Being, Adult, Calcinosis, Delivery, Obstetric, Echocardiography, Female, Humans, Magnetic Resonance Angiography, Middle Aged, Mothers, Mucocutaneous Lymph Node Syndrome, Pre-Eclampsia, Pregnancy, Pregnancy Complications, Cardiovascular, Pregnancy Outcome, Retrospective Studies, Surveys and Questionnaires, Tomography, X-Ray Computed, Anticoagulation, coronary artery aneurysms, Kawasaki disease, pregnancy, vasculitis, Medical and Health Sciences, Obstetrics & Reproductive Medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0w4830zxTest
-
5دورية أكاديميةPPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
المؤلفون: Guimier, A, Achleitner, MT, de Bellaing, AM, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, SB, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA, Doudney, K
العلاقة: pii: S1098-3600(21)05430-7; Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A. ,. Doudney, K. (2021). PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE, 23 (12), pp.2415-2425. https://doi.org/10.1038/s41436-021-01296-6Test.; http://hdl.handle.net/11343/301493Test
-
6دورية أكاديمية
المؤلفون: Cogné, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjöld, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Nellaker, C, Sapp, JC
العلاقة: https://ora.ox.ac.uk/objects/uuid:1e5ca980-164f-4328-9379-a5a2fa8e23ffTest; https://doi.org/10.1016/j.ajhg.2019.01.010Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.01.010Test
https://ora.ox.ac.uk/objects/uuid:1e5ca980-164f-4328-9379-a5a2fa8e23ffTest -
7دورية أكاديمية
المؤلفون: Engal, E, Oja, KT, Maroofian, R, Geminder, O, Le, TL, Marzin, P, Guimier, A, Mor, E, Zvi, N, Elefant, N, Zaki, MS, Gleeson, JG, Muru, K, Pajusalu, S, Wojcik, MH, Pachat, D, Elmaksoud, MA, Chan Jeong, W, Lee, H, Bauer, P, Zifarelli, G, Houlden, H, Daana, M, Elpeleg, O, Amiel, J, Lyonnet, S, Gordon, CT, Harel, T, Õunap, K, Salton, M, Mor-Shaked, H
المصدر: American Journal of Human Genetics , 110 (12) pp. 2112-2119. (2023)
مصطلحات موضوعية: WBP4, pre-mRNA splicing, spliceosome, syndromic neurodevelopmental disorder
-
8دورية أكاديمية
المؤلفون: Dion, C, Roche, S, Laberthonniere, C, Broucqsault, N, Mariot, V, Xue, S, Gurzau, AD, Nowak, A, Gordon, CT, Gaillard, M-C, El-Yazidi, C, Thomas, M, Schlupp-Robaglia, A, Missirian, C, Malan, V, Ratbi, L, Sefiani, A, Wollnik, B, Binetruy, B, Campana, ES, Attarian, S, Bernard, R, Nguyen, K, Amie, J, Dumonceaux, J, Murphy, JM, Dejardin, J, Blewitt, ME, Reversade, B, Robin, JD, Magdinier, F
العلاقة: pii: 5304324; Dion, C., Roche, S., Laberthonniere, C., Broucqsault, N., Mariot, V., Xue, S., Gurzau, A. D., Nowak, A., Gordon, C. T., Gaillard, M. -C., El-Yazidi, C., Thomas, M., Schlupp-Robaglia, A., Missirian, C., Malan, V., Ratbi, L., Sefiani, A., Wollnik, B., Binetruy, B. ,. Magdinier, F. (2019). SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. NUCLEIC ACIDS RESEARCH, 47 (6), pp.2822-2839. https://doi.org/10.1093/nar/gkz005Test.; http://hdl.handle.net/11343/253769Test
-
9دورية أكاديمية
المؤلفون: Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, Consortium, UK Inherited Retinal Dystrophy, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF
العلاقة: https://ora.ox.ac.uk/objects/uuid:a808a1e4-379a-4ff4-84ca-df4324613453Test; https://doi.org/10.1016/j.ajhg.2017.02.008Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.02.008Test
https://ora.ox.ac.uk/objects/uuid:a808a1e4-379a-4ff4-84ca-df4324613453Test -
10دورية أكاديمية
المؤلفون: Dubail, J, Huber, C, Chantepie, S, Sonntag, S, Tüysüz, B, Mihci, E, Gordon, CT, Steichen-Gersdorf, E, Amiel, J, Nur, B, Stolte-Dijkstra, I, van Eerde, AM, van Gassen, KL, Breugem, CC, Stegmann, A, Lekszas, C, Maroofian, R, Karimiani, EG, Bruneel, A, Seta, N, Munnich, A, Papy-Garcia, D, De La Dure-Molla, M, Cormier-Daire, V
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdfTest; Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; et al. Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; Stolte-Dijkstra, I; van Eerde, AM; van Gassen, KL; Breugem, CC; Stegmann, A; Lekszas, C; Maroofian, R; Karimiani, EG; Bruneel, A; Seta, N; Munnich, A; Papy-Garcia, D; De La Dure-Molla, M; Cormier-Daire, V (2018) SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Nat Commun, 9 (1). p. 3087. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-05191-8Test SGUL Authors: Maroofian, Reza
النص الكامل