المؤلفون: Kontaridis, MI, Roberts, AE, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, ME, Bakker, A, Bennett, AM, Broniscer, A, Castel, P, Chang, CA, Cyganek, L, Das, TK, den Hertog, J, Galperin, E, Garg, S, Gelb, BD, Gordon, K, Green, T, Gripp, KW, Itkin, M, Kiuru, M, Korf, BR, Livingstone, JR, López-Juárez, A, Magoulas, PL, Mansour, S, Milner, T, Parker, E, Pierpont, EI, Plouffe, K, Rauen, KA, Shankar, SP, Smith, SB, Stevenson, DA, Tartaglia, M, Van, R, Wagner, ME, Ware, SM, Zenker, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114220/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Kontaridis%20-%20The%20seventh%20international%20RASopathies%20symposium%20Pathways%20to%20a%20cure.pdfTest; Kontaridis, MI; Roberts, AE; Schill, L; Schoyer, L; Stronach, B; Andelfinger, G; Aoki, Y; Axelrad, ME; Bakker, A; Bennett, AM; et al. Kontaridis, MI; Roberts, AE; Schill, L; Schoyer, L; Stronach, B; Andelfinger, G; Aoki, Y; Axelrad, ME; Bakker, A; Bennett, AM; Broniscer, A; Castel, P; Chang, CA; Cyganek, L; Das, TK; den Hertog, J; Galperin, E; Garg, S; Gelb, BD; Gordon, K; Green, T; Gripp, KW; Itkin, M; Kiuru, M; Korf, BR; Livingstone, JR; López-Juárez, A; Magoulas, PL; Mansour, S; Milner, T; Parker, E; Pierpont, EI; Plouffe, K; Rauen, KA; Shankar, SP; Smith, SB; Stevenson, DA; Tartaglia, M; Van, R; Wagner, ME; Ware, SM; Zenker, M (2022) The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A, 188 (6). pp. 1915-1927. ISSN 1552-4833 https://doi.org/10.1002/ajmg.a.62716Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1002/ajmg.a.62716Test
https://openaccess.sgul.ac.uk/id/eprint/114220Test/
https://openaccess.sgul.ac.uk/id/eprint/114220/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Kontaridis%20-%20The%20seventh%20international%20RASopathies%20symposium%20Pathways%20to%20a%20cure.pdfTest

المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1038/s41431-021-01015-4Test
https://openaccess.sgul.ac.uk/id/eprint/113939Test/
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest

المؤلفون: Cif, L, Demailly, D, Lin, J-P, Barwick, KE, Sa, M, Abela, L, Malhotra, S, Chong, WK, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, MW, Applegate, CD, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, JA, Baple, EL, Bhatia, KP, Blanchet, C, Burglen, L, Cambonie, G, Seng, EC, Bastaraud, SC, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, ME, Farrelly, E, Fitzpatrick, DR, Fearon, C, Fieg, EL, Fogel, BL, Forman, EB, Fox, RG, Genomics England Research Consortium, Gahl, WA, Galosi, S, Gonzalez, V, Graves, TD, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, SJ, Hamosh, A, Hully, M, Jansen, S, Jeong, SY, Krier, JB, Krystal, S, Kumar, KR, Laurencin, C, Lee, H, Lesca, G, François, LL, Lynch, T, Mahant, N, Martinez-Agosto, JA, Milesi, C, Mills, KA, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, JR, Pal, S, Pallais, JC, Pavillard, F, Perrigault, P-F, Petersen, AK, Polo, G, Poulen, G, Rinne, T, Roujeau, T, Rogers, C, Roubertie, A, Sahagian, M, Schaefer, E, Selim, L, Selway, R, Sharma, N, Signer, R, Soldatos, AG, Stevenson, DA, Stewart, F, Tchan, M, Undiagnosed Diseases Network, Verma, IC, de Vries, BBA, Wilson, JL, Wong, DA, Zaitoun, R, Zhen, D, Znaczko, A, Dale, RC, de Gusmão, CM, Friedman, J, Fung, VSC, King, MD, Mohammad, SS, Rohena, L, Waugh, JL, Toro, C, Raymond, FL, Topf, M, Coubes, P, Gorman, KM, Kurian, MA

المصدر: Brain , 143 (11) pp. 3242-3261. (2020)

مصطلحات موضوعية: KMT2B, deep brain stimulation (DBS), dystonia, genetics, neurodevelopment

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10117508Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10117508Test/

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: Plotkin, SR, Messiaen, L, Legius, E, Pancza, P, Avery, RA, Blakeley, JO, Babovic-Vuksanovic, D, Ferner, R, Fisher, MJ, Friedman, JM, Giovannini, M, Gutmann, DH, Hanemann, Clemens Oliver, Kalamarides, M, Kehrer-Sawatzki, H, Korf, BR, Mautner, V-F, MacCollin, M, Papi, L, Rauen, KA, Riccardi, V, Schorry, E, Smith, MJ, Stemmer-Rachamimov, A, Stevenson, DA, Ullrich, NJ, Viskochil, D, Wimmer, K, Yohay, K, Huson, SM, Wolkenstein, P, Evans, DG, Anten, M, Aylsworth, A, Baralle, D, Barbarot, S, Barker, F, Ben-Shachar, S, Bergner, A, Bessis, D, Blanco, I, Cassiman, C, Ciavarelli, P, Clementi, M, Frébourg, T, Gomes, A, Halliday, D, Helen Hanson Arvid Heiberg, CH, Joly, P, Jordan, JT, Karajannis, M, Kroshinsky, D, Larralde, M, Lázaro, C, Le, L, Link, M, Listernick, R, Mallucci, C, Merker, VL, Moertel, C, Mueller, A, Ngeow, J, Oostenbrink, R, Packer, R, Parry, A, Peltonen, J, Pichard, D, Poppe, B, Rezende, N, Rodrigues, LO, Rosser, T, Ruggieri, M, Serra, E, Steinke-Lange, V, Stivaros, SM, Taylor, A, Toelen, J, Tonsgard, J, Trevisson, E, Upadhyaya, M, Varan, A, Wilson, M, Wu, H, Zadeh, G

مصطلحات موضوعية: lztr1, NF2, Neurofibromatosis, Schwannomatosis, SMARCB1

وصف الملف: 1967-1977; Print-Electronic; application/pdf

العلاقة: E-ISSN:1530-0366; http://hdl.handle.net/10026.1/19464Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
http://hdl.handle.net/10026.1/19464Test

المؤلفون: Legius, E, Messiaen, L, Wolkenstein, P, Pancza, P, Avery, RA, Berman, Y, Blakeley, J, Babovic-Vuksanovic, D, Cunha, KS, Ferner, R, Fisher, MJ, Friedman, JM, Gutmann, DH, Kehrer-Sawatzki, H, Korf, BR, Mautner, V-F, Peltonen, S, Rauen, KA, Riccardi, V, Schorry, E, Stemmer-Rachamimov, A, Stevenson, DA, Tadini, G, Ullrich, NJ, Viskochil, D, Wimmer, K, Yohay, K, Gomes, A, Jordan, JT, Mautner, V, Merker, VL, Smith, MJ, Stevenson, D, Anten, M, Aylsworth, A, Baralle, D, Barbarot, S, Barker, F, Ben-Shachar, S, Bergner, A, Bessis, D, Blanco, I, Cassiman, C, Ciavarelli, P, Clementi, M, Frébourg, T, Giovannini, M, Halliday, D, Hammond, C, Hanemann, Clemens Oliver, Hanson, H, Heiberg, A, Joly, P, Kalamarides, M, Karajannis, M, Kroshinsky, D, Larralde, M, Lázaro, C, Le, L, Link, M, Listernick, R, MacCollin, M, Mallucci, C, Moertel, C, Mueller, A, Ngeow, J, Oostenbrink, R, Packer, R, Papi, L, Parry, A, Peltonen, J, Pichard, D, Poppe, B, Rezende, N, Rodrigues, LO, Rosser, T, Ruggieri, M, Serra, E, Steinke-Lange, V, Stivaros, SM, Taylor, A, Toelen, J, Tonsgard, J, Trevisson, E, Upadhyaya, M, Varan, A, Wilson, M, Wu, H, Zadeh, G, Huson, SM, Evans, DG, Plotkin, SR

مصطلحات موضوعية: Cafe-au-Lait Spots, Consensus, Genetic Testing, Humans, Neurofibromatosis 1

وصف الملف: 1506-1513; Print-Electronic; application/pdf

العلاقة: E-ISSN:1530-0366; http://hdl.handle.net/10026.1/18075Test

الإتاحة: https://doi.org/10.1038/s41436-021-01170-5Test
http://hdl.handle.net/10026.1/18075Test

المؤلفون: Gripp, KW, Morse, LA, Axelrad, M, Chatfield, KC, Chidekel, A, Dobyns, W, Doyle, D, Kerr, B, Lin, AE, Schwartz, DD, Sibbles, Barbara, Siegel, D, Shankar, SP, Stevenson, DA, Thacker, MM, Weaver, KN, White, SM, Rauen, KA

المصدر: Gripp , KW , Morse , LA , Axelrad , M , Chatfield , KC , Chidekel , A , Dobyns , W , Doyle , D , Kerr , B , Lin , AE , Schwartz , DD , Sibbles , B , Siegel , D , Shankar , SP , Stevenson , DA , Thacker , MM , Weaver , KN , White , SM & Rauen , KA 2019 , ' Costello syndrome: Clinical phenotype, genotype, and management guidelines ' , American Journal of Medical Genetics Part A , vol. 179 , no. 9 , pp. ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A

العلاقة: https://pure.eur.nl/en/publications/98093463-91f3-4ad7-ab8d-807cd0b70ec8Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61270Test
https://pure.eur.nl/en/publications/98093463-91f3-4ad7-ab8d-807cd0b70ec8Test
http://hdl.handle.net/1765/119466Test

المؤلفون: Stevenson, DA, Schill, L, Schoyer, L, Andresen, BS, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fisher, MJ, Franz, D, Gelb, BD, Goriely, A, Gripp, KW, Hardan, AY, Keppler-Noreuil, KM, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, SR, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K, Widemann, BC

العلاقة: https://ora.ox.ac.uk/objects/uuid:5bfcedb6-bbfb-421b-aea9-59a82f472aa7Test; https://doi.org/10.1002/ajmg.a.37723Test

الإتاحة: https://doi.org/10.1002/ajmg.a.37723Test
https://ora.ox.ac.uk/objects/uuid:5bfcedb6-bbfb-421b-aea9-59a82f472aa7Test

المؤلفون: Stevenson, DA, Schill, L, Schoyer, L, Andresen, BS, Bakker, Anne, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Ype, Fisher, MJ, Franz, D, Gelb, BD, Goriely, A, Gripp, KW, Hardan, AY, Keppler-Noreuil, KM, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, SR, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K, Widemann, BC

المصدر: Stevenson , DA , Schill , L , Schoyer , L , Andresen , BS , Bakker , A , Bayrak-Toydemir , P , Burkitt-Wright , E , Chatfield , K , Elefteriou , F , Elgersma , Y , Fisher , MJ , Franz , D , Gelb , BD , Goriely , A , Gripp , KW , Hardan , AY , Keppler-Noreuil , KM , Kerr , B , Korf , B , Leoni , C , McCormick , F , Plotkin , SR , Rauen , KA , Reilly , K , Roberts , A ....

الإتاحة: https://doi.org/10.1002/ajmg.a.37723Test
https://pure.eur.nl/en/publications/3e427671-7533-4c00-a7af-593df908da19Test
http://hdl.handle.net/1765/86134Test

المؤلفون: Stevenson, DA, Schwarz, EL, Carey, JC, Viskochil, DH, Hanson, H, Bauer, S, Cindy Weng, H-Y, Greene, T, Reinker, K, Swensen, J, Chan, RJ, Yang, F-C, Senbanjo, L, Yang, Z, Mao, R, Pasquali, M

المصدر: Clinical Genetics ; volume 80, issue 6, page 566-573 ; ISSN 0009-9163

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01619.xTest