Results 171 to 180 of about 266,816 (307)
Correction: Zeppieri et al. Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity. <i>Int. J. Mol. Sci.</i> 2025, <i>26</i>, 3892. [PDF]
Int J Mol SciZeppieri M, Gagliano C, Di Maita M, Avitabile A, Gagliano G, Dammino E, Tognetto D, Cordeiro MF, D'Esposito F. +8 moreeuropepmc +1 more sourceLoss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death
Circulation, 2007 C. Antzelevitch, G. Pollevick, J. Cordeiro, Ó. Casis, M. Sanguinetti, Yoshiyasu Aizawa, A. Guerchicoff, R. Pfeiffer, A. Oliva, B. Wollnik, P. Gelber, Elias P. Bonaros, Elena Burashnikov, Y. Wu, John D Sargent, S. Schickel, R. Oberheiden, A. Bhatia, L. Hsu, M. Haïssaguerre, R. Schimpf, M. Borggrefe, C. Wolpert +22 moresemanticscholar +1 more sourceCorrection: Functional diversity of Brazilian bees: revealing the unique patterns of the Neotropics. [PDF]
OecologiaCordeiro GD, Giannini TC, Consorte PM, Costa ACJ, Machida WS, Marques BF, Mazzei ND, Menezes PP, Resende LS, Shimoda JA, Souza RS, Acosta AL, Aguiar AJC, Almeida EAB, Alves DA, Alves-Dos-Santos I, Andrade TO, Anjos-Silva EJ, Barbosa AS, Barbosa ERM, Bezerra LA, Borges RC, Brito TF, Camacho GP, Campbell AJ, Castro MS, Coelho BWT, Ferrari RR, Garófalo CA, González-Chaves AD, Keller GO, Lichtenberg EM, Marshall L, Martínez-Martínez CA, Martins MB, Martins AC, Maués MM, Moleiro HP, Mouga DMDS, de Oliveira FF, Ramos KS, Ramos RL, Rocha-Filho LC, Santos IPV, Santos S, Santos Júnior JE, Shibata A, Silva DP, Sousa FG, Teixeira CMN, Tietz AL, Trindade-Santos ME, Vilhena PS, Vivallo F, Carvalheiro LG. +54 moreeuropepmc +1 more sourceCharacterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics. Part A, 2015 Y. Crow, D. Chase, Johanna Lowenstein Schmidt, M. Szynkiewicz, Gabriella M. A. Forte, H. Gornall, A. Oojageer, Beverley H Anderson, A. Pizzino, G. Helman, M. Abdel-Hamid, G. Abdel-Salam, S. Ackroyd, A. Aeby, G. Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, G. Ariaudo, V. Aswani, R. Babul‐Hirji, E. Baildam, N. Bahi-Buisson, Kathryn M Bailey, C. Barnerias, M. Barth, R. Battini, M. Beresford, G. Bernard, M. Bianchi, T. Billette de Villemeur, E. Blair, M. Bloom, A. Burlina, Maria Luisa Carpanelli, D. Carvalho, M. Castro‐Gago, A. Cavallini, Cristina Cereda, K. Chandler, D. Chitayat, A. Collins, C. Sierra Córcoles, N.J.V. Cordeiro, G. Crichiutti, Lyvia Dabydeen, R. Dale, S. D'Arrigo, C. de Goede, Corinne de Laet, L. De Waele, I. Denzler, I. Desguerre, K. Devriendt, M. Di Rocco, M. Fahey, E. Fazzi, C. Ferrie, António Figueiredo, B. Gener, C. Goizet, N. R. Gowrinathan, K. Gowrishankar, D. Hanrahan, B. Isidor, B. Kara, Nasaim Khan, M. King, E. Kirk, Ram Kumar, L. Lagae, P. Landrieu, H. Lauffer, V. Laugel, R. Piana, M. Lim, Jean-Pierre Lin, T. Linnankivi, M. Mackay, Daphna Marom, Charles Marques LourenḈo, S. McKee, I. Moroni, J. Morton, M. Moutard, Kevin Murray, R. Nabbout, S. Nampoothiri, N. Núñez-Enamorado, P. Oades, I. Olivieri, J. Ostergaard, B. Pérez-Dueñas, J. Prendiville, V. Ramesh, M. Rasmussen, L. Régal, F. Ricci, M. Rio, D. Rodriguez, A. Roubertie, E. Salvatici, K. Segers, Gyanranjan P. Sinha, D. Soler, R. Spiegel, T. Stödberg, R. Straussberg, K. Swoboda, M. Suri, U. Tacke, T. Tan, J. te Water Naudé, Keng Wee Teik, Maya Mary Thomas, M. Till, D. Tonduti, Enza Maria Valente, Rudy Noel Van Coster, M. S. van der Knaap, G. Vassallo, R. Vijzelaar, J. Vogt, G. Wallace, E. Wassmer, Hannah J. Webb, W. Whitehouse, Robyn N. Whitney, M. Zaki, S. Zuberi, J. Livingston, F. Rozenberg, P. Lebon, A. Vanderver, S. Orcesi, G. Rice +135 moresemanticscholar +1 more source