Angiografia contrastada /

od Palma, Eduardo C.
Izdano 1942

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

od Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
izdano v Nucleic Acids Res (2019)

Does silvoagropecuary landscape fragmentation affect the genetic diversity of the sigmodontine rodent Oligoryzomys longicaudatus?

od Lazo-Cancino, Daniela, Musleh, Selim S., Hernandez, Cristian E., Palma, Eduardo, Rodriguez-Serrano, Enrique
izdano v PeerJ (2017)

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

od Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
izdano v Epilepsia (2020)

Evidence of the Coevolution of Antigenicity and Host Cell Tropism of Foot-and-Mouth Disease Virus In Vivo

od Tami, Cecilia, Taboga, Oscar, Berinstein, Analía, Núñez, José I., Palma, Eduardo L., Domingo, Esteban, Sobrino, Francisco, Carrillo, Elisa
Izdano 2003

Duplications at 19q13.33 in patients with neurodevelopmental disorders

od Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
izdano v Neurol Genet (2018)

The role of sodium channels in sudden unexpected death in pediatrics

od Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.
izdano v Mol Genet Genomic Med (2020)

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

od López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
izdano v Brain (2020)

Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons

od Pérez-Palma, Eduardo, Andrade, Víctor, Caracci, Mario O., Bustos, Bernabé I., Villaman, Camilo, Medina, Matías A., Ávila, Miguel E., Ugarte, Giorgia D., De Ferrari, Giancarlo V.
izdano v Neural Plast (2016)

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

od Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
izdano v Brain (2020)

Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies

od Pérez-Palma, Eduardo, Bustos, Bernabé I., Villamán, Camilo F., Alarcón, Marcelo A., Avila, Miguel E., Ugarte, Giorgia D., Reyes, Ariel E., Opazo, Carlos, De Ferrari, Giancarlo V.
Izdano 2014

Identification of pathogenic variant enriched regions across genes and gene families

od Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
izdano v Genome Res (2020)

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

od Iqbal, Sumaiya, Hoksza, David, Pérez-Palma, Eduardo, May, Patrick, Jespersen, Jakob B, Ahmed, Shehab S, Rifat, Zaara T, Heyne, Henrike O, Rahman, M Sohel, Cottrell, Jeffrey R, Wagner, Florence F, Daly, Mark J, Campbell, Arthur J, Lal, Dennis
izdano v Nucleic Acids Res (2020)

Assessment of genetic variant burden in epilepsy-associated brain lesions

od Niestroj, Lisa-Marie, May, Patrick, Artomov, Mykyta, Kobow, Katja, Coras, Roland, Pérez-Palma, Eduardo, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin, Beschorner, Rudi, Weber, Yvonne G., Blümcke, Ingmar, Lal, Dennis
izdano v Eur J Hum Genet (2019)

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

od Iqbal, Sumaiya, Pérez-Palma, Eduardo, Jespersen, Jakob B., May, Patrick, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis
izdano v Proc Natl Acad Sci U S A (2020)

Current knowledge of SLC6A1-related neurodevelopmental disorders

od Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis
izdano v Brain Commun (2020)

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

od Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna
izdano v Epilepsia (2019)

Copy number variants in lipid metabolism genes are associated with gallstones disease in men

od Pérez-Palma, Eduardo, Bustos, Bernabé I., Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shönfels, Witigo, Schafmayer, Clemens, Ahnert, Peter, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Puschel, Klaus, Gutiérrez, Rodrigo A., Hampe, Jochen, Nürnberg, Peter, Miquel, Juan Francisco, De Ferrari, Giancarlo V.
izdano v Eur J Hum Genet (2019)

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

od Pérez-Palma, Eduardo, Helbig, Ingo, Klein, Karl Martin, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig, Ganna, Andrea, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R, Saarentaus, Elmo, Howrigan, Daniel P, Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Neubauer, Bern A, Becker, Albert J, Rosenow, Felix, Perucca, Emilio, Zara, Federico, Weber, Yvonne G, Lal, Dennis
izdano v J Med Genet (2017)

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

od Bustos, Bernabé I., Pérez-Palma, Eduardo, Buch, Stephan, Azócar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D., Toliat, Mohammad, Nürnberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schönfels, Witigo, Schafmayer, Clemens, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Santos, José Luis, Puschel, Klaus, Bambs, Claudia, Roa, Juan Carlos, Gutiérrez, Rodrigo A., Hampe, Jochen, De Ferrari, Giancarlo V., Miquel, Juan Francisco
izdano v Sci Rep (2019)