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Material Type: Artigo
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental DuplicationDennis, Megan Y. ; Nuttle, Xander ; Sudmant, Peter H. ; Antonacci, Francesca ; Graves, Tina A. ; Nefedov, Mikhail ; Rosenfeld, Jill A. ; Sajjadian, Saba ; Malig, Maika ; Kotkiewicz, Holland ; Curry, Cynthia J. ; Shafer, Susan ; Shaffer, Lisa G. ; de Jong, Pieter J. ; Wilson, Richard K. ; Eichler, Evan E.Cell, 2012-05, Vol.149 (4), p.912-922 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A mesh-free pseudospectral approach to estimating the fractional Laplacian via radial basis functionsRosenfeld, Joel A. ; Rosenfeld, Spencer A. ; Dixon, Warren E.Journal of computational physics, 2019-08, Vol.390, p.306-322 [Periódico revisado por pares]Cambridge: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental DisordersJacquemont, Sébastien ; Coe, Bradley P. ; Hersch, Micha ; Duyzend, Michael H. ; Krumm, Niklas ; Bergmann, Sven ; Beckmann, Jacques S. ; Rosenfeld, Jill A. ; Eichler, Evan E.American journal of human genetics, 2014-03, Vol.94 (3), p.415-425 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Tribological performance of femtosecond laser-induced periodic surface structures on titanium and a high toughness bearing steelBonse, J. ; Koter, R. ; Hartelt, M. ; Spaltmann, D. ; Pentzien, S. ; Höhm, S. ; Rosenfeld, A. ; Krüger, J.Applied surface science, 2015-05, Vol.336, p.21-27 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Dynamics of the formation of laser-induced periodic surface structures (LIPSS) upon femtosecond two-color double-pulse irradiation of metals, semiconductors, and dielectricsHöhm, S. ; Herzlieb, M. ; Rosenfeld, A. ; Krüger, J. ; Bonse, J.Applied surface science, 2016-06, Vol.374, p.331-338 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderHao, Yi-Heng ; Fountain, Michael D. ; Fon Tacer, Klementina ; Xia, Fan ; Bi, Weimin ; Kang, Sung-Hae L. ; Patel, Ankita ; Rosenfeld, Jill A. ; Le Caignec, Cédric ; Isidor, Bertrand ; Krantz, Ian D. ; Noon, Sarah E. ; Pfotenhauer, Jean P. ; Morgan, Thomas M. ; Moran, Rocio ; Pedersen, Robert C. ; Saenz, Margarita S. ; Schaaf, Christian P. ; Potts, Patrick RyanMolecular cell, 2015-09, Vol.59 (6), p.956-969 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in DevelopmentBernier, Raphael ; Golzio, Christelle ; Xiong, Bo ; Stessman, Holly A. ; Coe, Bradley P. ; Penn, Osnat ; Witherspoon, Kali ; Gerdts, Jennifer ; Baker, Carl ; Vulto-van Silfhout, Anneke T. ; Schuurs-Hoeijmakers, Janneke H. ; Fichera, Marco ; Bosco, Paolo ; Buono, Serafino ; Alberti, Antonino ; Failla, Pinella ; Peeters, Hilde ; Steyaert, Jean ; Vissers, Lisenka E.L.M. ; Francescatto, Ludmila ; Mefford, Heather C. ; Rosenfeld, Jill A. ; Bakken, Trygve ; O’Roak, Brian J. ; Pawlus, Matthew ; Moon, Randall ; Shendure, Jay ; Amaral, David G. ; Lein, Ed ; Rankin, Julia ; Romano, Corrado ; de Vries, Bert B.A. ; Katsanis, Nicholas ; Eichler, Evan E.Cell, 2014-07, Vol.158 (2), p.263-276 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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LETd Optimization Verification With an SOI MicrodosimeterPan, V.A. ; Tran, L.T. ; Madden, T. ; Clasie, B. ; Kooy, H. ; Rosenfeld, A.B. ; Depauw, N.International journal of radiation oncology, biology, physics, 2024-07, Vol.119 (3), p.946-956 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromePoli, M. Cecilia ; Ebstein, Frédéric ; Nicholas, Sarah K. ; de Guzman, Marietta M. ; Forbes, Lisa R. ; Chinn, Ivan K. ; Mace, Emily M. ; Vogel, Tiphanie P. ; Carisey, Alexandre F. ; Benavides, Felipe ; Coban-Akdemir, Zeynep H. ; Gibbs, Richard A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Carvalho, Claudia M.B. ; Schady, Deborah A. ; Jain, Mahim ; Rosenfeld, Jill A. ; Emrick, Lisa ; Lewis, Richard A. ; Lee, Brendan ; Zieba, Barbara A. ; Küry, Sébastien ; Krüger, Elke ; Lupski, James R. ; Bostwick, Bret L. ; Orange, Jordan S.American journal of human genetics, 2018-06, Vol.102 (6), p.1126-1142 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic BoundariesTalkowski, Michael E. ; Rosenfeld, Jill A. ; Blumenthal, Ian ; Pillalamarri, Vamsee ; Chiang, Colby ; Heilbut, Adrian ; Ernst, Carl ; Hanscom, Carrie ; Rossin, Elizabeth ; Lindgren, Amelia M. ; Pereira, Shahrin ; Ruderfer, Douglas ; Kirby, Andrew ; Ripke, Stephan ; Harris, David J. ; Lee, Ji-Hyun ; Ha, Kyungsoo ; Kim, Hyung-Goo ; Solomon, Benjamin D. ; Gropman, Andrea L. ; Lucente, Diane ; Sims, Katherine ; Ohsumi, Toshiro K. ; Borowsky, Mark L. ; Loranger, Stephanie ; Quade, Bradley ; Lage, Kasper ; Miles, Judith ; Wu, Bai-Lin ; Shen, Yiping ; Neale, Benjamin ; Shaffer, Lisa G. ; Daly, Mark J. ; Morton, Cynthia C. ; Gusella, James F.Cell, 2012-04, Vol.149 (3), p.525-537 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |