檢索結果 - Pérez‐Palma, Eduardo

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database 由 Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis

獲取全文 獲取全文 獲取全文

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis 由 Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis

獲取全文 獲取全文 獲取全文

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies 由 Beltrán-Corbellini, Álvaro, Aledo-Serrano, Ángel, Møller, Rikke S., Pérez-Palma, Eduardo, García-Morales, Irene, Toledano, Rafael, Gil-Nagel, Antonio

獲取全文 獲取全文 獲取全文

Duplications at 19q13.33 in patients with neurodevelopmental disorders 由 Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis

獲取全文 獲取全文 獲取全文

The role of sodium channels in sudden unexpected death in pediatrics 由 Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Incidence and prevalence of major epilepsy-associated brain lesions 由 López-Rivera, Javier A., Smuk, Victoria, Leu, Costin, Nasr, Gaelle, Vegh, Deborah, Stefanski, Arthur, Pérez-Palma, Eduardo, Busch, Robyn, Jehi, Lara, Najm, Imad, Blümcke, Ingmar, Lal, Dennis

獲取全文 獲取全文 獲取全文

Identification of pathogenic variant enriched regions across genes and gene families 由 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

獲取全文 獲取全文 獲取全文

Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort 由 Baez-Nieto, David, Allen, Andrew, Akers-Campbell, Seth, Yang, Lingling, Budnik, Nikita, Pupo, Amaury, Shin, Young-Cheul, Genovese, Giulio, Liao, Maofu, Pérez-Palma, Eduardo, Heyne, Henrike, Lal, Dennis, Lipscombe, Diane, Pan, Jen Q.

獲取全文 獲取全文 獲取全文

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe 由 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

獲取全文 獲取全文 獲取全文

Assessment of genetic variant burden in epilepsy-associated brain lesions 由 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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Current knowledge of SLC6A1-related neurodevelopmental disorders 由 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

獲取全文 獲取全文 獲取全文

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies 由 Brunklaus, Andreas, Pérez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Kattan, Michael W., Zuberi, Sameer M., Lal, Dennis

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文