المؤلفون: Olivé-Cirera, Gemma, Fonseca, Elianet, Chen, Li-Wen, Fetta, Anna, Martínez-Hernández, Eugenia, Guasp, Mar, González-Álvarez, Veronica, Delgadillo, Verónica, Cantarín-Extremera, Verónica, Jiménez-Legido, María, Monge-Galindo, Lorena, Felipe, Ana, Beseler, Beatriz, Turón-Viñas, Eulàlia, Fernández-Ramos, Joaquín, Martínez-González, Maria J, Vázquez-López, Maria, Arrabal Fernandez, Luisa, Alvarez-Molinero, Mireia, Muñoz-Cabello, Beatriz, Camacho, Ana, Nuñez-Enamorado, Noemí, Spatola, Marianna, Sabater, Lídia, Blanco, Yolanda, Saiz, Albert, Graus, Francesc, Dalmau, Josep, Armangué, Thaís

المساهمون: Olivé-Cirera, Gemma, Fonseca, Elianet, Chen, Li-Wen, Fetta, Anna, Martínez-Hernández, Eugenia, Guasp, Mar, González-Álvarez, Veronica, Delgadillo, Verónica, Cantarín-Extremera, Verónica, Jiménez-Legido, María, Monge-Galindo, Lorena, Felipe, Ana, Beseler, Beatriz, Turón-Viñas, Eulàlia, Fernández-Ramos, Joaquín, Martínez-González, Maria J, Vázquez-López, Maria, Arrabal Fernandez, Luisa, Alvarez-Molinero, Mireia, Muñoz-Cabello, Beatriz, Camacho, Ana, Nuñez-Enamorado, Noemí, Spatola, Marianna, Sabater, Lídia, Blanco, Yolanda, Saiz, Albert, Graus, Francesc, Dalmau, Josep, Armangué, Thaís

مصطلحات موضوعية: autoimmune encephaliti, pediatric neuroimmunology

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/39706634; info:eu-repo/semantics/altIdentifier/wos/WOS:001394551300001; volume:24; issue:1; firstpage:54; lastpage:64; numberofpages:11; journal:LANCET NEUROLOGY; https://hdl.handle.net/11585/1002739

الاتاحة: https://hdl.handle.net/11585/1002739
https://doi.org/10.1016/S1474-4422(24)00443-5

المؤلفون: Trujillano, Laura, Valenzuela, Irene, Costa‐Roger, Mar, Cuscó, Ivon, Fernandez‐Alvarez, Paula, Cueto‐González, Anna, Lasa‐Aranzasti, Amaia, Masotto, Bárbara, Abulí, Anna, Codina‐Solà, Marta, del Campo, Miguel, Ruiz Moreno, Juan Antonio, Pardo Domínguez, Cristina, Palma Milla, Carmen, Pérez de la Fuente, Rubén, Quesada‐Espinosa, Juan Francisco, Núñez‐Enamorado, Noemí, Gener, Blanca, Ballesta‐Martínez, María Juliana, Brea‐Fernández, Alejandro J., Fernández‐Prieto, Montse, Trujillo‐Quintero, Juan Pablo, Ruiz, Anna, Santos‐Simarro, Fernando, Rosello, Mónica, Orellana, Carmen, Martinez, Francisco, Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Serrano, Mercedes, Palomares‐Bralo, María, Rikeros‐Orozco, Emi, Gómez‐Cano, María Ángeles, Tirado‐Requero, Pilar, Pié Juste, Juan, Ramos, Feliciano J., García‐Arumí, Elena, Tizzano, Eduardo F.

المصدر: Clinical Genetics ; ISSN 0009-9163 1399-0004

الاتاحة: https://doi.org/10.1111/cge.14701
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14701

المؤلفون: Vila-Bedmar, Sara, Martinez de Aragon Calvo, Ana, Liebana-Rojas, Constanza, Pedrero-Tomas, Roberto, Camacho-Salas, Ana, NuÑez-Enamorado, Noemi, Simon de las Heras, Rogelio, de Vergas Gutierrez, Joaquin, Zamora Crespo, Berta, Vicente Iglesias, Marta, Villaverde, Serena, Tejada-Palacios, Pilar, Cuadrado Perez, Irene, Pallas, Carmen R., Soriano-Ramos, Maria, Perez-Rivilla, Alfredo, Folgueira-Lopez, Maria Dolores, Blazquez-Gamero, Daniel

المصدر: Pediatric Infectious Disease Journal; Dec2024, Vol. 43 Issue 12, pe434-e440, 7p

المؤلفون: Brunklaus, Andreas, Bruenger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nunez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Moller, Rikke S, Mantegazza, Massimo, Cestele, Sandrine

المصدر: Brain , 145 (11) pp. 3816-3831. (2022)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10176276/1/McTague_The%20gain%20of%20function%20SCN1A%20disorder%20spectrum_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10176276/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10176276/1/McTague_The%20gain%20of%20function%20SCN1A%20disorder%20spectrum_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10176276/

المؤلفون: Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Møller, Rikke S, Mantegazza, Massimo, Cestèle, Sandrine

المصدر: Brunklaus , A , Brünger , T , Feng , T , Fons , C , Lehikoinen , A , Panagiotakaki , E , Vintan , M-A , Symonds , J , Andrew , J , Arzimanoglou , A , Delima , S , Gallois , J , Hanrahan , D , Lesca , G , MacLeod , S , Marjanovic , D , McTague , A , Nuñez-Enamorado , N , Perez-Palma , E , Scott Perry , M , Pysden , K , Russ-Hall , S J , Scheffer , I E , Sully , K , ....

مصطلحات موضوعية: SCN1A, arthrogryposis, epilepsy, gain of function, movement disorder, Epilepsies, Myoclonic/drug therapy, Humans, Infant, Migraine with Aura, Movement Disorders, NAV1.1 Voltage-Gated Sodium Channel/genetics, Phenotype, Spasms, Infantile, Epilepsy/genetics, Gain of Function Mutation, Newborn

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/de8123a9-ded4-40a7-a50e-c9f736eb91d9
https://doi.org/10.1093/brain/awac210
https://findresearcher.sdu.dk/ws/files/216175270/Open_Access_Version.pdf

المؤلفون: Soriano-Ramos, María, Pedrero-Tomé, Roberto, Giménez Quiles, Estela, Albert Vicent, Eliseo, Baquero-Artigao, Fernando, Rodríguez-Molino, Paula, del Rosal, Teresa, Noguera-Julian, Antoni, Fortuny, Clàudia, Ríos-Barnés, María, Saavedra-Lozano, Jesús, Dueñas, Eva, Sánchez Mateos, Miguel, Castells Vilella, Laura, de la Serna, María, Frick, Marie Antoinette, de Vergas, Joaquín, Núñez Enamorado, Noemí, Moral-Pumarega, María Teresa, Folgueira, María Dolores, Navarro, David, Blázquez-Gamero, Daniel, Hernández, Judith, Pisón, Raquel Pinillos, Arnaiz, Eneritz Velasco, Villaverde, Serena, Vila, Sara, Rojo, Pablo, Epalza, Cristina, Moraleda, Cinta, Cooke, Elisa Fernández, Prieto, Luis, Zamora, Berta, Martínez de Aragón, Ana, Simón, Rogelio, Camacho, Ana, Machín, Fátima, Cabello, Laura, Romero, María Luz, Serna, Miquel, Martín, Marta, Esquivel-De la Fuente, Estrella, Calle, María de la, Rodríguez, Sara Domínguez, Cabanes, María, Gómez-Montes, Enery, Goncé, Anna, Bango, Marta Valdés, Viñuela-Benéitez, Ma Carmen, Muñoz-Chápuli Gutiérrez, Mar

المصدر: The Journal of Pediatrics ; page 114084 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2024.114084
https://api.elsevier.com/content/article/PII:S0022347624001872?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347624001872?httpAccept=text/plain

المؤلفون: Soriano-Ramos, María, Núñez Enamorado, Noemí, Navarro-Abia, Virginia, Simón de las Heras, Rogelio

المصدر: Anales de Pediatría ; volume 88, issue 3, page 174-175 ; ISSN 1695-4033

الاتاحة: http://dx.doi.org/10.1016/j.anpedi.2017.06.007
https://api.elsevier.com/content/article/PII:S1695403317302734?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1695403317302734?httpAccept=text/plain

المؤلفون: Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime

المصدر: neurogenetics ; volume 22, issue 4, page 343-346 ; ISSN 1364-6745 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-021-00660-7
https://link.springer.com/content/pdf/10.1007/s10048-021-00660-7.pdf
https://link.springer.com/article/10.1007/s10048-021-00660-7/fulltext.html

المؤلفون: Gómez-Arriaga, Paula, Herraiz, Ignacio, Puente, Jose Manuel, Zamora-Crespo, Berta, Núñez-Enamorado, Noemi, Galindo, Alberto

المصدر: Fetal Diagnosis and Therapy ; volume 31, issue 1, page 12-18 ; ISSN 1015-3837 1421-9964

الاتاحة: http://dx.doi.org/10.1159/000331408
https://karger.com/fdt/article-pdf/31/1/12/3892776/000331408.pdf

المؤلفون: Navarro-Abia, Virginia, Soriano-Ramos, María, Núñez-Enamorado, Noemí, Camacho-Salas, Ana, Martinez-de Aragón, Ana, Martín-Hernández, Elena, Simón-de las Heras, Rogelio

المصدر: Brain and Development ; volume 40, issue 4, page 348-352 ; ISSN 0387-7604

الاتاحة: http://dx.doi.org/10.1016/j.braindev.2017.12.005
https://api.elsevier.com/content/article/PII:S038776041730311X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S038776041730311X?httpAccept=text/plain

المؤلفون: Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M. A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel Hamid, Mohamed S., Abdel Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon Shalev, Stavit, Arellano, Montse, Aswani, Vijay, Babul Hirji, Riyana, Baildam, Eileen M., Bahi Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Genevieve, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J. V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G. E. L., De Laet, Corinne, De Waele, Liesbeth M. H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Ferrie, Colin D., Figueiredo, Antonio, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Lent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean Pierre S. M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenco, Charles Marques, Mckee, Shane A., Moroni, Isabella, Morton, Jenny E. V., Moutard, Marie Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Perez Duenas, Belen, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Regal, Luc, Ricci, Federica, Rio, Marlene, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stoedberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Rice, Gillian I., ARIAUDO, GIADA, D'ARRIGO, STEFANO, FAZZI, ELISA MARIA, OLIVIERI, IVANA, VALENTE, ENZA MARIA, ORCESI, SIMONA

المساهمون: Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M. A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel Hamid, Mohamed S., Abdel Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul Hirji, Riyana, Baildam, Eileen M., Bahi Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Genevieve, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J. V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D'Arrigo, Stefano, De Goede, Christian G. E. L., De Laet, Corinne, De Waele, Liesbeth M. H., Denzler, Ine, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, ELISA MARIA, Ferrie, Colin D., Figueiredo, Antonio, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Lent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean Pierre S. M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenco, Charles Marque, Mckee, Shane A., Moroni, Isabella, Morton, Jenny E. V., Moutard, Marie Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Perez Duenas, Belen, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Regal, Luc, Ricci, Federica, Rio, Marlene, Rodriguez, Diana

Relation: info:eu-repo/semantics/altIdentifier/pmid/25604658; info:eu-repo/semantics/altIdentifier/wos/WOS:000348843600007; volume:167; issue:2; firstpage:296; lastpage:312; numberofpages:17; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/1180853; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84921417123

الاتاحة: http://hdl.handle.net/11571/1180853
https://doi.org/10.1002/ajmg.a.36887

المؤلفون: Camacho Salas, Ana, Rojo Conejo, Pablo, Núñez Enamorado, Noemí, Simón de las Heras, Rogelio

المصدر: Enfermedades infecciosas y microbiologia clinica (English ed.) ; volume 35, issue 6, page 388-389 ; ISSN 2529-993X

الاتاحة: http://dx.doi.org/10.1016/j.eimce.2017.04.006
https://api.elsevier.com/content/article/PII:S2529993X17301466?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2529993X17301466?httpAccept=text/plain

المؤلفون: Muñoz Amat, Bárbara, Vázquez Román, Sara, Gallego Herrero, Carmen, Núñez-Enamorado, Noemí, Toldos González, Óscar, Pallás Alonso, Carmen R.

المصدر: Pediatric Neurology ; volume 71, page 8-13 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.030
https://api.elsevier.com/content/article/PII:S0887899416302417?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899416302417?httpAccept=text/plain

المؤلفون: Camacho Salas, Ana, Rojo Conejo, Pablo, Núñez Enamorado, Noemí, Simón de las Heras, Rogelio

المصدر: Enfermedades Infecciosas y Microbiología Clínica ; volume 35, issue 6, page 388-389 ; ISSN 0213-005X

الاتاحة: http://dx.doi.org/10.1016/j.eimc.2016.10.002
https://api.elsevier.com/content/article/PII:S0213005X16303147?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213005X16303147?httpAccept=text/plain

المؤلفون: Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Billette de Villemeur, Thierry, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Luisa Carpanelli, Maria, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D′Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Piana, Roberta La, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Marques Lourenço, Charles, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., te Water Naude, Johann, Wee Teik, Keng, Mary Thomas, Maya, Till, Marianne, Tonduti, Davide, Maria Valente, Enza, Noel Van Coster, Rudy, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

Relation: Crow, Y. J. et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, and IFIH1. American Journal of Medical Genetics Part A , 167(2), pp. 296-312. (doi:10.1002/ajmg.a.36887 ) (PMID:25604658)

الاتاحة: http://eprints.gla.ac.uk/104074/

المؤلفون: Rice, Gillian I., Forte, Gabriella M. A., Szynkiewicz, Marcin, Chase, Diana S., Aeby, Alec, Abdel-Hamid, Mohamed S., Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M., Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P., Cereda, Cristina, Chandler, Kate E., Dabydeen, Lyvia, Dale, Russell C., De Laet, Corinne, De Goede, Christian G. E. L., del Toro, Mireia, Effat, Laila, Nunez Enamorado, Noemi, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre, Livingston, John H., Lourenco, Charles Marques, Marques, Wilson, Oades, Patrick, Peterson, Paert, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A., Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J., Temtamy, Samia A., Vassallo, Grace, Vilain, Catheline N., Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P., Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S., Zaki, Maha S., Abdel-Salam, Ghada M. H., Vanderver, Adeline, Kisand, Kai, Rozenberg, Fiore, Lebon, Pierre, Crow, Yanick J.

المصدر: Rice , G I , Forte , G M A , Szynkiewicz , M , Chase , D S , Aeby , A , Abdel-Hamid , M S , Ackroyd , S , Allcock , R , Bailey , K M , Balottin , U , Barnerias , C , Bernard , G , Bodemer , C , Botella , M P , Cereda , C , Chandler , K E , Dabydeen , L , Dale , R C , De Laet , C , De Goede , C G E L , del Toro , M , ....

مصطلحات موضوعية: SYSTEMIC-LUPUS-ERYTHEMATOSUS, PROGRESSIVE FAMILIAL ENCEPHALOPATHY, CEREBROSPINAL-FLUID LYMPHOCYTOSIS, INDUCIBLE GENE-EXPRESSION, INTRATHECAL SYNTHESIS, RHEUMATOID-ARTHRITIS, DOSE-ESCALATION, BASAL GANGLIA, PHASE-I, DISEASE

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/6841b68b-823b-4b23-8bde-644e44d2a1da
https://doi.org/10.1016/S1474-4422(13)70258-8