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1دورية أكاديمية
المؤلفون: Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu
المصدر: EBioMedicine, Vol 98, Iss , Pp 104855- (2023)
مصطلحات موضوعية: SCN8A, Chronic ataxia, Episodic ataxia, Loss-of-function, Patch-clamp, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396423004218Test; https://doaj.org/toc/2352-3964Test
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2دورية أكاديمية
المؤلفون: Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro, NKX2-1-Related Disorders Guideline Working Group
المصدر: PLoS ONE, Vol 18, Iss 2, p e0281573 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: inherited neurometabolic disorders, movement disorders, leukodystrophy, stroke, mitochondrial disease, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.737398/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar
المصدر: Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)
مصطلحات موضوعية: Angelman syndrome, autosomal recessive deafness type 57, case report, COL17A1, epidermolysis bullosa, PDZD7, Medicine, Medicine (General), R5-920
العلاقة: https://doi.org/10.1002/ccr3.7275Test; https://doaj.org/toc/2050-0904Test; https://doaj.org/article/272214c56e584787973dde41991b0204Test
الإتاحة: https://doi.org/10.1002/ccr3.7275Test
https://doaj.org/article/272214c56e584787973dde41991b0204Test -
6مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test -
7دورية أكاديمية
المؤلفون: Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: Huntington's disease, chorea, phenocopy, diagnosis, differential diagnosis, guidelines, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.891800/fullTest; https://doaj.org/toc/1664-2295Test
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8دورية أكاديمية
المؤلفون: Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: Huntington's disease, chorea, phenocopy, diagnosis, differential diagnosis, guidelines, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.817753/fullTest; https://doaj.org/toc/1664-2295Test
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9دورية أكاديمية
المؤلفون: Carola Reinhard, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graessner
المصدر: Frontiers in Neurology, Vol 11 (2021)
مصطلحات موضوعية: rare neurological diseases, standards of care, training and education, virtual healthcare, European reference network, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.616569/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/d626e4ca4eb942849d4ce495989090a2Test
الإتاحة: https://doi.org/10.3389/fneur.2020.616569Test
https://doaj.org/article/d626e4ca4eb942849d4ce495989090a2Test -
10دورية أكاديمية
المؤلفون: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://doi.org/10.1002/acn3.51470Test; https://doaj.org/toc/2328-9503Test; https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276Test
الإتاحة: https://doi.org/10.1002/acn3.51470Test
https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276Test