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1دورية أكاديمية
المؤلفون: Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Algorithm, WES/WGS, HPOs, Variant prioritization, Interactome, Hereditary spastic paraplegia, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. delCastillo
المصدر: JIMD Reports, Vol 51, Iss 1, Pp 53-61 (2020)
مصطلحات موضوعية: genetic screening, lysosomal disease, NGS resequencing panels, splenomegaly, thrombocytopenia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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3دورية أكاديمية
المؤلفون: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium
المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
مصطلحات موضوعية: Cerebellum, Congenital disorders of glycosylation, Developmental disorders, Gait disorders/ataxia, ICARS, MRI, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
مصطلحات موضوعية: ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5
المؤلفون: Francisco J. del Castillo, Gloria Muñoz, Marta Gandía, Crina Ciubotariu, David García-Seisdedos, Miguel Piris-Villaespesa, María Domínguez-Ruiz, Enrique Calderón, Antonio González-Meneses, Javier López-Jiménez, Hada Macher, Marta Morado, Luis G. Gutiérrez-Solana, Isidro Vitoria, María Unceta, Leticia Ceberio, Raquel Yahyaoui, Miguel A. Torralba, Naima Fdil, Joaquín Carrillo-Farga, Amaya Belanger, Jesús Villarrubia
المصدر: MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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6
المؤلفون: Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez
المصدر: Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Human genome, Base Sequence, Whole Genome Sequencing, Malalties del sistema nerviós central, Genomics, Genoma humà, White Matter, Fenotip, Genòmica, Phenotype, Central Nervous System Diseases, Exome Sequencing, Malalties hereditàries, Humans, Exome, Neurology (clinical), Genetic diseases
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964 -
7
المؤلفون: Cristina, Rodríguez-Fernández, Laura, López-Marín, Miguel Ángel, López-Pino, Luis G, Gutiérrez-Solana, Víctor, Soto-Insuga, David, Conejo-Moreno
المصدر: Revista de neurologia. 57(7)
مصطلحات موضوعية: Male, Adolescent, Encephalomyelitis, Acute Disseminated, Acyclovir, Immunoglobulins, Intravenous, Infant, Plasmapheresis, Recovery of Function, Antiviral Agents, Magnetic Resonance Imaging, Lymphohistiocytosis, Hemophagocytic, Diagnosis, Differential, Adrenal Cortex Hormones, Spain, Child, Preschool, Disease Progression, Humans, Female, Encephalitis, Herpes Simplex, Encephalitis, Viral, Symptom Assessment, Child, Respiratory Tract Infections, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7ec70557270cdb4dca7bd7812b268a7a
https://pubmed.ncbi.nlm.nih.gov/24052440 -
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المؤلفون: Laura, López-Marín, Mónica, Martín-Belinchón, Luis G, Gutiérrez-Solana, Beatriz, Morte-Molina, Anna, Duat-Rodríguez, Juan, Bernal
المصدر: Revista de neurologia. 56(12)
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Genotype, Pelizaeus-Merzbacher Disease, Symporters, Brain, Biological Transport, Genetic Diseases, X-Linked, Exons, Magnetic Resonance Imaging, Nystagmus, Pathologic, Diagnosis, Differential, Muscular Atrophy, Thyroxine, Amino Acid Substitution, Dystonic Disorders, Child, Preschool, Intellectual Disability, Mental Retardation, X-Linked, Humans, Muscle Hypotonia, Point Mutation, Triiodothyronine, Anticonvulsants, Cord Blood Stem Cell Transplantation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ec8ec5129ce0b28929124e3859bf3384
https://pubmed.ncbi.nlm.nih.gov/23744248 -
9
المؤلفون: Rebeca, Losada-Del Pozo, Verónica, Cantarín-Extremera, Juan J, García-Peñas, Anna, Duat-Rodríguez, Laura, López-Marín, Luis G, Gutiérrez-Solana, M Luz, Ruiz-Falcó
المصدر: Revista de neurologia. 53(11)
مصطلحات موضوعية: Male, Epstein-Barr Virus Infections, Epilepsy, Adolescent, Migraine Disorders, Vision Disorders, Electroencephalography, Syndrome, Child, Preschool, Evoked Potentials, Visual, Humans, Female, Child, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b3fd2b6cdb364bdf8713ec480be57b86
https://pubmed.ncbi.nlm.nih.gov/22086425 -
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المصدر: Pediatric Dermatology. 29:369-370
مصطلحات موضوعية: Male, medicine.medical_specialty, Idursulfase, Treatment outcome, Iduronate Sulfatase, Dermatology, Skin Diseases, medicine, Humans, Enzyme Replacement Therapy, Child, Mucopolysaccharidosis II, integumentary system, business.industry, Hunter syndrome, social sciences, Enzyme replacement therapy, medicine.disease, humanities, Surgery, Treatment Outcome, Pediatrics, Perinatology and Child Health, population characteristics, Skin lesion, business, geographic locations, medicine.drug
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