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1Academic Journal
المؤلفون: Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C
المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 93-98 (2018)
مصطلحات موضوعية: exome, intellectual disability, next generation sequencing, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Laurell, T, Lundin, J, Anderlid, BM, Gorski, JL, Grigelioniene, G, Knight, SJL, Krepischi, ACV, Nordenskjold, A, Price, SM, Rosenberg, C, Turnpenny, PD, Vianna-Morgante, AM, Nordgren, A
المصدر: European journal of human genetics : EJHG. 21(10):1085-1092
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3Academic Journal
المؤلفون: KOOLEN DA, SHARP AJ, HURST JA, FIRTH HV, KNIGHT SJ, GOLDENBERG A, SAUGIER VEBER P, PFUNDT R, VISSERS LE, DESTRÉE A, GRISART B, ROOMS L, VAN DER AA N, FIELD M, HACKETT A, BELL K, NOWACZYK MJ, MANCINI GM, PODDIGHE PJ, SCHWARTZ CE, ROSSI, ELENA, DE GREGORI, MANUELA, ANTONACCI FULTON LL, MCLELLAN MD ND, GARRETT JM, WIECHERT MA, MINER TL, CROSBY S, CICCONE, ROBERTO, WILLATT L, RAUCH A, ZENKER M, ARADHYA S, MANNING MA, STROM TM, WAGENSTALLER J, KREPISCHI SANTOS AC, VIANNA MORGANTE AM, ROSENBERG C, PRICE SM, STEWART H, SHAW SMITH C, BRUNNER HG, WILKIE AO, VELTMAN JA, ZUFFARDI, ORSETTA, EICHLER EE, DE VRIES BB
المساهمون: Koolen, Da, Sharp, Aj, Hurst, Ja, Firth, Hv, Knight, Sj, Goldenberg, A, SAUGIER VEBER, P, Pfundt, R, Vissers, Le, Destrée, A, Grisart, B, Rooms, L, VAN DER AA, N, Field, M, Hackett, A, Bell, K, Nowaczyk, Mj, Mancini, Gm, Poddighe, Pj, Schwartz, Ce, Rossi, Elena, DE GREGORI, Manuela, ANTONACCI FULTON, Ll, MCLELLAN MD, Nd, Garrett, Jm, Wiechert, Ma, Miner, Tl, Crosby, S, Ciccone, Roberto, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, Ma, Strom, Tm, Wagenstaller, J, KREPISCHI SANTOS, Ac, VIANNA MORGANTE, Am, Rosenberg, C, Price, Sm, Stewart, H, SHAW SMITH, C, Brunner, Hg, Wilkie, Ao, Veltman, Ja, Zuffardi, Orsetta, Eichler, Ee, DE VRIES, Bb
مصطلحات موضوعية:
"NUOVE SINDROMI", "DELEZIONI CRIPTICHE", "ARRAY CGH" وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000260535600004; volume:45; issue:11; firstpage:710; lastpage:720; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/119148; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-56049085381
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4Conference
المؤلفون: Bauters, Marijke, Van Esch, Hilde, Friez, MR, Boespflug-Tanguy, O, Zenker, M, Vianna-Morgante, AM, Rosenberg, C, Ignatius, J, Raynaud, M, Hollanders, K, Govaerts, K, Vandenreijt, Niel, F, Blanc, P, Stevenson, RE, Fryns, Jean-Pierre, Marynen, Peter, Schwartz, GE, Froyen, Guy
Relation: Proceedings pages:P11; Genomic Disorders 2008 location:Hinxton, UK date:17-20 March, 2008; https://lirias.kuleuven.be/handle/123456789/302339
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5Conference
المؤلفون: Bauters, M, Van Esch, Hilde, Friez, MJ, Boespfug-tanguy, O, Zenker, M, Vianna-Morgante, AM, Rosenberg, C, Ignathius, J, Raynaud, M, Hollanders, K, Govaerts, K, Vandenreijt, K, Niel, F, Blanc, P, Stevenson, RE, Fryns, Jean-Pierre, Marynen, P, Schwartz, CE, Froyen, Guy
Relation: Proceedings pages:28-28; Belgian Society of Human Genetics, 8th Annual Meeting location:Leuven, Belgium date:April 25, 2008; https://lirias.kuleuven.be/handle/123456789/302305
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6Conference
المؤلفون: Bauters, Marijke, Van Esch, Hilde, Friez, M, Boespflug-Tanguy, Zenker, M, Vianna-Morgante, AM, Ignatius, J, Raynaud, M, Hollanders, K, Vandenreijt, K, Blanc, P, Moraine, C, Stevenson, R, Marynen, Peter, Fryns, Jean-Pierre, Schwartz, C, Froyen, Guido
Relation: Cellular Oncology vol:29 issue:2 pages:108; 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD) location:VU Univ Med Ctr, Amsterdam, Netherlands date:May 03-05, 2007; https://lirias.kuleuven.be/handle/123456789/261989
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7Conference
المؤلفون: Lugtenberg, D, Zangrande-Vieira, L, Kirchhoff, M, Ullmann, R, Vianna-Morgante, AM, Oudakker, A, Chelly, J, Froyen, Guy, Fryns, Jean-Pierre, Ropers, HH, Moraine, C, Hamel, BJC, De Brouwer, APM, Van Bokhoven, H, Rosenberg, C
Relation: Proceedings; 13th International Workshop on Fragile X and X-linked Mental Retardation location:Venezia Lido, Italy date:3-6 October 2007; https://lirias.kuleuven.be/handle/123456789/302224
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8Conference
المؤلفون: Van Esch, Hilde, Bauters, Marijke, Friez, M, Boespflug-Tanguy, O, Vianna-Morgante, AM, Ignatius, J, Zenker, M, Moraine, C, Stevenson, R, Marynen, Peter, Fryns, Jean-Pierre, Schwartz, C, Froyen, Guy
Relation: Proceedings; 12th Manchester Birth Defects Conference location:Manchester, UK date:21-24 November 2006; https://lirias.kuleuven.be/handle/123456789/295954
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9Conference
المؤلفون: Van Esch, Hilde, Bauters, Marijke, Friez, M, Boespflug-Tanguy, O, Raynaud, M, Vianna-Morgante, AM, Ignathius, J, Zenker, M, Blanc, P, Moraine, C, Stevenson, R, Marynen, Peter, Schkwartz, C, Froyen, Guido, Fryns, Jean-Pierre
Relation: pages:14-14; 7th National conference for general practitioners and paediatricians with international participation location:Slanchev Briag, Bulgarije date:May 24-26, 2006; https://lirias.kuleuven.be/handle/123456789/271828
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10Academic Journal
المؤلفون: Fonseca, ACS, Bonaldi, A, Costa, SS, Freitas, MR, Kok, F, Vianna‐Morgante, AM
المصدر: Clinical Genetics ; volume 83, issue 2, page 169-174 ; ISSN 0009-9163 1399-0004
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11Academic Journal
المؤلفون: Mazzeu, JF, Vianna‐Morgante, AM, Krepischi, ACV, Oudakker, A, Rosenberg, C, Szuhai, K, McGill, J, MacCraughan, J, Van Bokhoven, H, Brunner, HG
المصدر: Clinical Genetics ; volume 77, issue 4, page 404-407 ; ISSN 0009-9163 1399-0004
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12Academic Journal
المؤلفون: Catelani, ALPM, Krepischi, ACV, Kim, CA, Kok, F, Otto, PA, Auricchio, MTBM, Mazzeu, JF, Uehara, DT, Costa, SS, Knijnenburg, J, Tabith, A, Vianna‐Morgante, AM, Mingroni‐Netto, RC, Rosenberg, C
المصدر: Clinical Genetics ; volume 76, issue 5, page 458-464 ; ISSN 0009-9163 1399-0004
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13Academic Journal
المؤلفون: Dorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, Annabel C Whibley, Astrid R Oudakker, Susanne Kjaergaard, Angela M Vianna-Morgante, Tjitske Kleefstra, Mariken Ruiter, Fernanda S Jehee, Reinhard Ullmann, Charles E Schwartz, Michael Stratton, F Lucy Raymond, Joris A Veltman, Terry Vrijenhoek, Rolph Pfundt, Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Guy Froyen, Jamel Chelly, Hans Hilger Ropers, Claude Moraine, Jozef G Ecz, Jeroen Knijnenburg, Sarina G Kant, Ben C J Hamel, Carla Rosenberg, Hans Van Bokhoven, Arjan P M De Brouwer, Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley Ac, Oudakker Ar, Kjaergaard S, Vianna-Morgante Am, Kleefstra T, Ruiter M, Jehee Fs, Ullmann R, Schwartz Ce, Stratton M, Raymond Fl, Veltman Ja, Pfundt R Vrijenhoek T, Schuurs-Hoeijmakers Jhm, Hehir-Kwa Jy, Froyen G, Chelly J, Ropers Hh, Moraine C, G Ecz J, Knijnenburg J, Kant Sg, Hamel Bcj, Rosenberg C Van Bokhoven, Ph.D Arjan P M De Brouwer
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1049.6422; http://genoma.ib.usp.br/sites/default/files/publicacoes/recurrent_deletion_of_znf630.pdf
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14Academic Journal
المؤلفون: Fonseca, ACS, Bonaldi, A, Costa, SS, Freitas, MR, Kok, F, Vianna‐Morgante, AM
المصدر: Clinical Genetics; Feb2013, Vol. 83 Issue 2, p169-174, 6p, 1 Black and White Photograph, 2 Graphs
مصطلحات موضوعية: GENES, PELIZAEUS-merzbacher disease, DISEASES in girls, CHROMOSOMAL translocation, PROTEOLIPIDS
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15Academic Journal
المؤلفون: Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI
المصدر: Journal of Intellectual Disabilities; Sep2009, Vol. 13 Issue 3, p239-248, 10p
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