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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundShaffer, Lisa G. ; Rosenfeld, Jill A. ; Dabell, Mindy P. ; Coppinger, Justine ; Bandholz, Anne M. ; Ellison, Jay W. ; Ravnan, J. Britt ; Torchia, Beth S. ; Ballif, Blake C. ; Fisher, Allan J.Prenatal diagnosis, 2012-10, Vol.32 (10), p.986-995 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Novel features of 3q29 deletion syndrome: Results from the 3q29 registryGlassford, Megan R. ; Rosenfeld, Jill A. ; Freedman, Alexa A. ; Zwick, Michael E. ; Mulle, Jennifer G.American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.999-1006 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Diagnostic utility of microarray testing in pregnancy lossRosenfeld, J. A. ; Tucker, M. E. ; Escobar, L. F. ; Neill, N. J. ; Torchia, B. S. ; McDaniel, L. D. ; Schultz, R. A. ; Chong, K. ; Chitayat, D.Ultrasound in obstetrics & gynecology, 2015-10, Vol.46 (4), p.478-486 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Implication of LRRC4C and DPP6 in neurodevelopmental disordersMaussion, Gilles ; Cruceanu, Cristiana ; Rosenfeld, Jill A. ; Bell, Scott C. ; Jollant, Fabrice ; Szatkiewicz, Jin ; Collins, Ryan L. ; Hanscom, Carrie ; Kolobova, Ilaria ; de Champfleur, Nicolas Menjot ; Blumenthal, Ian ; Chiang, Colby ; Ota, Vanessa ; Hultman, Christina ; O'Dushlaine, Colm ; McCarroll, Steve ; Alda, Martin ; Jacquemont, Sebastien ; Ordulu, Zehra ; Marshall, Christian R. ; Carter, Melissa T. ; Shaffer, Lisa G. ; Sklar, Pamela ; Girirajan, Santhosh ; Morton, Cynthia C. ; Gusella, James F. ; Turecki, Gustavo ; Stavropoulos, Dimitri J. ; Sullivan, Patrick F. ; Scherer, Stephen W. ; Talkowski, Michael E. ; Ernst, CarlAmerican journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.395-406 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Tunable pinning effects produced by non‐uniform antidot arrays in YBCO thin filmsGeorge, J. ; Jones, A. ; Al‐Qurainy, M. ; Fedoseev, S. A. ; Rosenfeld, A. ; Pan, A. V.Annalen der Physik, 2017-04, Vol.529 (4), p.np-n/a [Periódico revisado por pares]Weinheim: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical regionStrehle, Eugen-Matthias ; Yu, Linbo ; Rosenfeld, Jill A. ; Donkervoort, Sandra ; Zhou, Yulin ; Chen, Tian-Jian ; Martinez, Jose E. ; Fan, Yao-Shan ; Barbouth, Deborah ; Zhu, Hongbo ; Vaglio, Alicia ; Smith, Rosemarie ; Stevens, Cathy A. ; Curry, Cynthia J. ; Ladda, Roger L. ; Fan, Zheng (Jane) ; Fox, Joyce E. ; Martin, Judith A. ; Abdel-Hamid, Hoda Z. ; McCracken, Elizabeth A. ; McGillivray, Barbara C. ; Masser-Frye, Diane ; Huang, TaoshengAmerican journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsRosenfeld, Jill A. ; Crolla, John A. ; Tomkins, Susan ; Bader, Patricia ; Morrow, Bernice ; Gorski, Jerome ; Troxell, Robin ; Forster-Gibson, Cynthia ; Cilliers, Deirdre ; Hislop, R. Gordon ; Lamb, Allen ; Torchia, Beth ; Ballif, Blake C. ; Shaffer, Lisa G.American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1951-1959 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patientsChowdhury, Shimul ; Bandholz, Anne M. ; Parkash, Sandhya ; Dyack, Sarah ; Rideout, Andrea L. ; Leppig, Kathleen A. ; Thiese, Heidi ; Wheeler, Patricia G. ; Tsang, Marilyn ; Ballif, Blake C. ; Shaffer, Lisa G. ; Torchia, Beth S. ; Ellison, Jay W. ; Rosenfeld, Jill A.American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.62-69 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literatureCallaway, Jonathan L. A. ; Shaffer, Lisa G. ; Chitty, Lyn S. ; Rosenfeld, Jill A. ; Crolla, John A.Prenatal diagnosis, 2013-12, Vol.33 (12), p.1119-1123 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The gradient descent method from the perspective of fractional calculusHai, Pham Viet ; Rosenfeld, Joel A.Mathematical methods in the applied sciences, 2021-05, Vol.44 (7), p.5520-5547 [Periódico revisado por pares]Freiburg: Wiley Subscription Services, IncTexto completo disponível |