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1دورية أكاديمية
المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME
المصدر: American journal of human genetics. 104(6):1210-1222
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Collier, JJ, Guissart, C, Oláhová, M, Sasorith, S, Piron-Prunier, F, Suomi, F, Zhang, D, Martinez-Lopez, N, Leboucq, N, Bahr, A, Azzarello-Burri, S, Reich, S, Schöls, L, Polvikoski, TM, Meyer, P, Larrieu, L, Schaefer, AM, Alsaif, HS, Alyamani, S, Zuchner, S, Barbosa, IA, Deshpande, C, Pyle, A, Rauch, A, Synofzik, M, Alkuraya, FS, Rivier, F, Ryten, M, McFarland, R, Delahodde, A, McWilliams, TG, Koenig, M, Taylor, RW
المصدر: New England Journal of Medicine , 384 (25) pp. 2406-2417. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10130931Test/
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3دورية أكاديمية
المؤلفون: Papuc, S.M., Abela, L., Steindl, K., Begemann, A., Simmons, T.L., Schmitt, B., Zweier, M., Oneda, B., Socher, E., Crowther, L.M., Wohlrab, G., Gogoll, L., Poms, M., Seiler, M., Papik, M., Baldinger, R., Baumer, A., Asadollahi, R., Kroell-Seger, J., Schmid, R., Iff, T., Schmitt-Mechelke, T., Otten, K., Hackenberg, A., Addor, M.C., Klein, A., Azzarello-Burri, S., Sticht, H., Joset, P., Plecko, B., Rauch, A.
المصدر: European journal of human genetics, vol. 27, no. 3, pp. 408-421
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, DNA Copy Number Variations, Epilepsy/diagnosis, Epilepsy/genetics, Exome, Female, Genes, Recessive, Humans, Infant, Male, Mutation Rate, Whole Exome Sequencing/methods
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30552426; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2D0E099C90581; https://serval.unil.ch/notice/serval:BIB_2D0E099C9058Test; urn:issn:1018-4813; https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2D0E099C90581Test
الإتاحة: https://doi.org/10.1038/s41431-018-0299-8Test
https://serval.unil.ch/notice/serval:BIB_2D0E099C9058Test
https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2D0E099C90581Test -
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5مؤتمر
المؤلفون: Korotcenko, L, Azzarello-Burri, S, Baumer, A, Hillinger, S, Weder, W, Opitz, I, Lauk, O
المصدر: Zentralblatt für Chirurgie - Zeitschrift für Allgemeine, Viszeral-, Thorax- und Gefäßchirurgie ; DACH-Jahrestagung Thoraxchirurgie ; ISSN 1438-9592
الإتاحة: https://doi.org/10.1055Test/s-0039-1694228
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6دورية أكاديمية
المؤلفون: Wolff, D., Endele, Sabine, Azzarello-Burri, S., Hoyer, Juliane, Zweier, Markus, Schanze, I., Schmitt, B., Rauch, A., Reis, André, Zweier, Christiane
مصطلحات موضوعية: ddc:610
وصف الملف: application/pdf
العلاقة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/3398Test; urn:nbn:de:bvb:29-opus-46783; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus-46783Test; https://opus4.kobv.de/opus4-fau/files/3398/MSY2011002006237.pdfTest
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7دورية أكاديمية
المؤلفون: Wolff, D, Endele, S, Azzarello-Burri, S, Hoyer, J, Zweier, M, Schanze, I, Schmitt, B, Rauch, A, Reis, A, Zweier, C
المصدر: Wolff, D; Endele, S; Azzarello-Burri, S; Hoyer, J; Zweier, M; Schanze, I; Schmitt, B; Rauch, A; Reis, A; Zweier, C (2012). In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.
مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/72428/1/337323.pdfTest; info:pmid/22822383; urn:issn:1661-8769
الإتاحة: https://doi.org/10.5167/uzh-72428Test
https://doi.org/10.1159/000337323Test
https://www.zora.uzh.ch/id/eprint/72428Test/
https://www.zora.uzh.ch/id/eprint/72428/1/337323.pdfTest -
8دورية أكاديمية
المؤلفون: Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C.
المصدر: Molecular Syndromology ; volume 2, issue 6, page 237-244 ; ISSN 1661-8769 1661-8777
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9دورية أكاديمية
المؤلفون: Stoll, S., Unger, S., Azzarello-Burri, S., Chappuis, P., Graffeo, R., Pichert, G., Röthlisberger, B., Taban, F., Riniker, S.
المصدر: Swiss medical weekly, vol. 151, pp. w30038
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34519462; info:eu-repo/semantics/altIdentifier/eissn/1424-3997; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_89048E00F77D8; https://serval.unil.ch/notice/serval:BIB_89048E00F77DTest; urn:issn:0036-7672; https://serval.unil.ch/resource/serval:BIB_89048E00F77D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_89048E00F77D8Test
الإتاحة: https://doi.org/10.4414/SMW.2021.w30038Test
https://serval.unil.ch/notice/serval:BIB_89048E00F77DTest
https://serval.unil.ch/resource/serval:BIB_89048E00F77D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_89048E00F77D8Test -
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المؤلفون: Azzarello-Burri, S., Joset, P., Andrieux, J., Lopes, F., Palmer, E., Czeschik, J., Demeer, B, Duque, F., Küchler, Alma, Maciel, P., Hackenberg, A., Oneda, B., Rauch, A.
مصطلحات موضوعية: Medizin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=unidue___bib::f8656215f6db25eb78c8407e172e2746Test
https://www.ncbi.nlm.nih.gov/pubmed/30275485Test
النص الكامل