Angiografia contrastada /

ανά Palma, Eduardo C.
Έκδοση 1942.

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

ανά Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Τόπος έκδοσης Nucleic Acids Res (2019)

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

ανά Lazo-Cancino, Daniela, Musleh, Selim S., Hernandez, Cristian E., Palma, Eduardo, Rodriguez-Serrano, Enrique
Τόπος έκδοσης PeerJ (2017)

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

ανά Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Τόπος έκδοσης Epilepsia (2020)

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

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

Duplications at 19q13.33 in patients with neurodevelopmental disorders

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

The role of sodium channels in sudden unexpected death in pediatrics

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

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

ανά 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
Τόπος έκδοσης Brain (2020)

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

ανά 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.
Τόπος έκδοσης Neural Plast (2016)

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

ανά 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
Τόπος έκδοσης Brain (2020)

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

ανά 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.
Έκδοση 2014

Identification of pathogenic variant enriched regions across genes and gene families

ανά 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
Τόπος έκδοσης Genome Res (2020)

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

ανά 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
Τόπος έκδοσης Nucleic Acids Res (2020)

Assessment of genetic variant burden in epilepsy-associated brain lesions

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2019)

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

ανά 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
Τόπος έκδοσης Proc Natl Acad Sci U S A (2020)

Current knowledge of SLC6A1-related neurodevelopmental disorders

ανά 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
Τόπος έκδοσης Brain Commun (2020)

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

ανά 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
Τόπος έκδοσης Epilepsia (2019)

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

ανά 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.
Τόπος έκδοσης Eur J Hum Genet (2019)

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

ανά 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
Τόπος έκδοσης J Med Genet (2017)

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

ανά 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
Τόπος έκδοσης Sci Rep (2019)