Angiografia contrastada /

av Palma, Eduardo C.
Publicerad 1942.

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

av Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
I publikationen Nucleic Acids Res (2019)

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

av Lazo-Cancino, Daniela, Musleh, Selim S., Hernandez, Cristian E., Palma, Eduardo, Rodriguez-Serrano, Enrique
I publikationen PeerJ (2017)

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

av Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
I publikationen Epilepsia (2020)

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

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

Duplications at 19q13.33 in patients with neurodevelopmental disorders

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

The role of sodium channels in sudden unexpected death in pediatrics

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

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

av 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
I publikationen Brain (2020)

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

av 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.
I publikationen Neural Plast (2016)

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

av 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
I publikationen Brain (2020)

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

av 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.
Publicerad 2014

Identification of pathogenic variant enriched regions across genes and gene families

av 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
I publikationen Genome Res (2020)

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

av 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
I publikationen Nucleic Acids Res (2020)

Assessment of genetic variant burden in epilepsy-associated brain lesions

av 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
I publikationen Eur J Hum Genet (2019)

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

av 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
I publikationen Proc Natl Acad Sci U S A (2020)

Current knowledge of SLC6A1-related neurodevelopmental disorders

av 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
I publikationen Brain Commun (2020)

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

av 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
I publikationen Epilepsia (2019)

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

av 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.
I publikationen Eur J Hum Genet (2019)

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

av 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
I publikationen J Med Genet (2017)

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

av 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
I publikationen Sci Rep (2019)