المؤلفون: Celia Teira Serrano, Pastora Martínez Castilla, Carmen Nieto

المصدر: Revista de Investigación en Logopedia, Vol 14, Iss 2 (2024)

مصطلحات موضوعية: PACS1, familia, PICCOLO, atención temprana, vídeo-feedback, Language and Literature, Philology. Linguistics, P1-1091, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

العلاقة: https://revistas.ucm.es/index.php/RLOG/article/view/92838Test; https://doaj.org/toc/2174-5218Test

الوصول الحر: https://doaj.org/article/3c9c9ce199e345c3bd08562d95d04002Test

المؤلفون: Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas, Juan Pié

المصدر: Journal of Clinical Medicine; Volume 12; Issue 12; Pages: 4052

مصطلحات موضوعية: Schuurs-Hoeijmakers syndrome, PACS1 neurodevelopmental disorder, PACS1 -NDD, congenital heart disease, myocardial strain analysis

وصف الملف: application/pdf

العلاقة: Cardiology; https://dx.doi.org/10.3390/jcm12124052Test

الإتاحة: https://doi.org/10.3390/jcm12124052Test

المؤلفون: Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca

المساهمون: Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca

مصطلحات موضوعية: PACS1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36210549; info:eu-repo/semantics/altIdentifier/wos/WOS:000865339800001; volume:191; issue:A; firstpage:284; lastpage:288; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11585/917524Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139463134

الإتاحة: https://doi.org/10.1002/ajmg.a.62984Test
https://hdl.handle.net/11585/917524Test

المؤلفون: Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli, Anne T. Berg

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: PACS1, Epilepsy, Neurodevelopment, Autism, Precision medicine, Trial readiness, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/7933f400e4bb4e2f8e4b39a95e0a1e4eTest

المؤلفون: He Chuan, Su Caixia, Zhang Wentong, Wan Qi

المصدر: Translational Neuroscience, Vol 12, Iss 1, Pp 335-345 (2021)

مصطلحات موضوعية: alzheimer’s disease, pericytes, mir-485-5p, pacs1, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2081-6936Test

الوصول الحر: https://doaj.org/article/53a0e191276d4a8c964415fcbbcd5af1Test

المؤلفون: Yuan Liu, Hongke Ding, Tizhen Yan, Ling Liu, Lihua Yu, Yanlin Huang, Fake Li, Yukun Zeng, Weiwei Huang, Yan Zhang, Aihua Yin

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Schuurs-Hoeijmakers syndrome, PACS1, multi-exon deletion, loss of function, rare disease, PACS1 neurodevelopmental disorder, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.690216/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/6fc3e8a131704ef4beeea4eb84fbec46Test

المؤلفون: María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pié, Beatriz Puisac

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9649

مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, SHMS, PACS1 -NDD, trafficking protein, targeted therapy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23179649Test

الإتاحة: https://doi.org/10.3390/ijms23179649Test

المؤلفون: Sahar Adnan Abdulqader, Wafaa Abdulqader Wli, Samer Habeeb Qaryaqos

المصدر: Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)

مصطلحات موضوعية: coloboma, neonatal seizure, PACS1, Schuurs‐Hoeijmakers syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/41b8d3b66f2544c79df218054dc7c888Test

المؤلفون: Nair-Gill E., Bonora M., Zhong X., Liu A., Miranda A., Stewart N., Ludwig S., Russell J., Gallagher T., Pinton P., Beutler B.

المساهمون: Nair-Gill, E., Bonora, M., Zhong, X., Liu, A., Miranda, A., Stewart, N., Ludwig, S., Russell, J., Gallagher, T., Pinton, P., Beutler, B.

مصطلحات موضوعية: calcium homeostasis, lymphocyte quiescence, lymphoproliferative disease, Pacs1, Wdr37

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33630350; info:eu-repo/semantics/altIdentifier/wos/WOS:000621544000001; volume:40; issue:9; firstpage:e104888-1; lastpage:e104888-19; numberofpages:19; journal:EMBO JOURNAL; https://hdl.handle.net/11392/2479031Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101592233

الإتاحة: https://doi.org/10.15252/embj.2020104888Test
https://hdl.handle.net/11392/2479031Test

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

المساهمون: UAM. Departamento de Medicina

مصطلحات موضوعية: Intellectual disability, Phospho-furin acidic cluster sorting protein 1, Rare disorders, Schuurs–Hoeijmakers syndrome, pathogenic variant c.607C > T, PACS1, Medicina

وصف الملف: application/pdf

العلاقة: Genes; https://doi.org/10.3390/genes12050738Test; Genes 12.5 (2021): 738; http://hdl.handle.net/10486/699466Test; 738-1; 738-9; 12

الإتاحة: https://doi.org/10.3390/genes12050738Test
http://hdl.handle.net/10486/699466Test