المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina

المصدر: Genes, Vol 12, Iss 5, p 738 (2021)

مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/5/738Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/2d9555adce584bd3876b207d116bd669Test

المؤلفون: Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martin, Ángela Deyà-Martínez, Andrea Martín-Nalda, Mónica Martínez-Gallo, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobran, Jordi Yagüe, Laia Alsina, Manel Juan, Ferran Casals

المصدر: Frontiers in Immunology, Vol 9 (2018)

مصطلحات موضوعية: common variable immunodeficiency, primary immunodeficiency, exome sequencing, loss-of-function, rare disease genetics, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fimmu.2018.00636/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/101b88bc2f1f4640aaf1b70c55b35578Test

المؤلفون: Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8289

مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23158289Test

الإتاحة: https://doi.org/10.3390/ijms23158289Test

المؤلفون: Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cuscó, Laura Trujillano, Feliciano J. Ramos, Eduardo F. Tizzano, Paulino Gómez-Puertas, Juan Pié

المصدر: Genes; Volume 13; Issue 8; Pages: 1413

مصطلحات موضوعية: Cornelia de Lange syndrome, genetic disorder, copy number variants, HDAC8, intragenic duplication, array CGH, genetic diagnosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13081413Test

الإتاحة: https://doi.org/10.3390/genes13081413Test

المؤلفون: Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F. Tizzano

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 16; Pages: 9029

مصطلحات موضوعية: spinal muscular atrophy, survival motor neuron 1, survival motor neuron 2, genotype-phenotype correlations, variants, hybrid structure

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22169029Test

الإتاحة: https://doi.org/10.3390/ijms22169029Test

المؤلفون: Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

المصدر: EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.15252/emmm.202013133Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/d2e7a76235fb4c859b656b689277ccd4Test

الإتاحة: https://doi.org/10.15252/emmm.202013133Test
https://doaj.org/article/d2e7a76235fb4c859b656b689277ccd4Test

المؤلفون: Francesc Rudilla, Clara Franco-Jarava, Mónica Martínez-Gallo, Marina Garcia-Prat, Andrea Martín-Nalda, Jacques Rivière, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Pere Soler-Palacín, Roger Colobran

المصدر: Frontiers in Immunology, Vol 10 (2019)

مصطلحات موضوعية: primary immunodeficiencies, next generation sequencing, clinical exome sequencing, TruSight one sequencing panel, mutations, genetic variants, Immunologic diseases. Allergy, RC581-607

العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2019.02325/fullTest; https://doaj.org/toc/1664-3224Test; https://doaj.org/article/a3e86574318847b29443580a3a3128d6Test

الإتاحة: https://doi.org/10.3389/fimmu.2019.02325Test
https://doaj.org/article/a3e86574318847b29443580a3a3128d6Test

المؤلفون: Jair, Tenorio-Castaño, Beatriz, Morte, Julián, Nevado, Víctor, Martinez-Glez, Fernando, Santos-Simarro, Sixto, García-Miñaúr, María, Palomares-Bralo, Marta, Pacio-Míguez, Beatriz, Gómez, Pedro, Arias, Alba, Alcochea, Juan, Carrión, Patricia, Arias, Berta, Almoguera, Fermina, López-Grondona, Isabel, Lorda-Sanchez, Enrique, Galán-Gómez, Irene, Valenzuela, María Pilar, Méndez Perez, Ivón, Cuscó, Francisco, Barros, Juan, Pié, Sergio, Ramos, Feliciano J, Ramos, Alma, Kuechler, Eduardo, Tizzano, Carmen, Ayuso, Frank J, Kaiser, Luis A, Pérez-Jurado, Ángel, Carracedo, The ENoD-Ciberer Consortium, The Side Consortium, Pablo, Lapunzina

المصدر: Genes

مصطلحات موضوعية: Male, Vesicular Transport Proteins, Syndrome, phosphofurin acidic cluster sorting protein 1, Article, pathogenic variant c.607C > T, Phenotype, PACS1, Neurodevelopmental Disorders, intellectual disability, Mutation, Schuurs–Hoeijmakers syndrome, Humans, Abnormalities, Multiple, Female, rare disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::388c52eacdb431e17081e64cb0bde6d6Test
https://pubmed.ncbi.nlm.nih.gov/34068396Test

المؤلفون: Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

المصدر: EMBO Molecular Medicine, Vol 6, Iss 3, Pp 299-306 (2014)

مصطلحات موضوعية: mRNA splicing, pituitary hypoplasia, U12‐type introns, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.1002/emmm.201303573Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/0c62d11ee4ff4c95b77c0b3ae95baeb8Test

الإتاحة: https://doi.org/10.1002/emmm.201303573Test
https://doaj.org/article/0c62d11ee4ff4c95b77c0b3ae95baeb8Test

المؤلفون: Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompsom R, Horvath R, Pèrez-Jurado L, Riess O, van Ommen GJ, Lochmüller A, Beltran S, RD-Connect GPAP and URD-Cat data contributors Alessandra Renieri, Ali Dursun, Antoni Matilla- Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler, Eva Morava, Fabrizio Barbetti, Francesca Forzano, Francesca Mari, Francesco Muntoni, Frederic Tort, Henry James Houlden, Isabel Tejada, Jan Senderek, Javier Benitez, Javier Corral De La Calle, Jordi Serra, José Mª Millán, Jose segovia, Juan Ramon Gimeno Blanes, Judith Armstrong, Koksal Ozgul, Laura Vilarinho, Lluis Montoliu, Manuel Posada, Maria Antonietta Mencarelli, Marina Mora, Paola Bianchi, Pavel Seeman, Perry M. Elliott, Alessandra Ferlini, Alexis Brice, Brunhilde Wirth, Mike Hanna, Sarah Tabrizi, Thomas Klockgether, Vincent Timmerman, Volker Straub, Semra Hiz Kurul, Yavuz Oktay, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Alfons Macaya, Antonia Ribes, Aurora Pujol, Conxi Lázaro, Daniel Grinberg, Eduardo Tizzano, Francesc Cardellach, Francesc Palau, Montse Milà, Pia Gallano, Rafael Artuch, Ramon Martí Seves, Gonzalo Villanueva, Silvia Vidal, Gloria Garrabou, Susanna Balcells, Roser Urreizti, Estrella López, Ivon Cuscó, Irene Valenzuela, Maria Sabater.

المساهمون: L, M, S, L, A, P, D, P, E, M, G, B, R, T, R, H, L, P, O, R, Ommen GJ, V, A, L, S, B, GPAP and URD-Cat data contributors Alessandra Renieri, R, Dursun, A, Matilla- Duenas, A, Cormand, B, Rivolta, C, Ayuso, C, Espinós, C, Scerri, C, Yalnizoglu, D, Soler, D, Morava, E, Barbetti, F, Forzano, F, Mari, F, Muntoni, F, Tort, F, James Houlden, H, Tejada, I, Senderek, J, Benitez, J, Corral De La Calle, J, Serra, J, Mª Millán, J, Segovia, J, Ramon Gimeno Blanes, J, Armstrong, J, Ozgul, K, Vilarinho, L, Montoliu, L, Posada, M, Antonietta Mencarelli, M, Mora, M, Bianchi, P, Seeman, P, Elliott, Pm, Ferlini, A, Brice, A, Wirth, B, Hanna, M, Tabrizi, S, Klockgether, T, Timmerman, V, Straub, V, Hiz Kurul, S, Oktay, Y, Gungor, S, Yaramis, A, Yis, U, Macaya, A, Ribes, A, Pujol, A, Lázaro, C, Grinberg, D, Tizzano, E, Cardellach, F, Palau, F, Milà, M, Gallano, P, Artuch, R, Martí Seves, R, Villanueva, G, Vidal, S, Garrabou, G, Balcells, S, Urreizti, R, López, E, Cuscó, I, Valenzuela, I, Sabater., M

مصطلحات موضوعية: Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32619640; info:eu-repo/semantics/altIdentifier/wos/WOS:000569911300011; volume:22; issue:9; firstpage:1205; lastpage:1215; numberofpages:11; journal:THE JOURNAL OF MOLECULAR DIAGNOSTICS; http://hdl.handle.net/2108/258095Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087791154

الإتاحة: http://hdl.handle.net/2108/258095Test