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المؤلفون: Latorre-Pellicer, Ana, Trujillano Lidón, Laura, del Rincón de la Villa, Julia, Peña-Marco, Mónica, Gil Salvador, Marta, Lucia Campos, Cristina
المساهمون: Institut Català de la Salut, [Latorre-Pellicer A, Del Rincón J, Peña-Marco M, Gil-Salvador M, Lucia-Campos C] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. [Trujillano L] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: Cardiovascular Diseases::Heart Diseases [DISEASES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Hipertensió, Cardiovascular Diseases::Vascular Diseases::Hypertension [DISEASES], Malalties mentals, enfermedades cardiovasculares::enfermedades cardíacas [ENFERMEDADES], Cor - Malalties, enfermedades cardiovasculares::enfermedades vasculares::hipertensión [ENFERMEDADES], Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3991::e4141229f060b8167285f007260ebeb9Test
https://hdl.handle.net/11351/9941Test -
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المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest -
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المؤلفون: Natàlia Romaní, Maria Pieras, Marie Antoinette Frick, Elena Sulleiro, Carlota Rodó, Aroa Silgado, Anna Suy, Maria Espiau, Claire Thorne, Carlo Giaquinto, Ana Felipe-Rucián, Pere Soler-Palacín, Antoni Soriano-Arandes
المساهمون: Institut Català de la Salut, [Romaní N, Pieras M, Frick MA, Espiau M, Soler-Palacín P, Soriano-Arandes A] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Sulleiro E, Silgado A] Centro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos III, Barcelona, Spain. Servei de Microbiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Rodó C, Suy A] Unitat de Medicina Fetal, Servei d’Obstetrícia i Medicina Reproductiva, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Felipe-Rucián A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Children; Volume 9; Issue 10; Pages: 1537
Scientiaمصطلحات موضوعية: Sistema nerviós - Malalties, infecciones bacterianas y micosis::infección::complicaciones infecciosas del embarazo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], virosis::infecciones por arbovirus::infección por el virus del Zika [ENFERMEDADES], personas::Grupos de Edad::lactante::recién nacido [DENOMINACIONES DE GRUPOS], Malalties transmissibles en l'embaràs, Persons::Age Groups::Infant::Infant, Newborn [NAMED GROUPS], Arbovirosis, Otros calificadores::Otros calificadores::/complicaciones [Otros calificadores], Zika virus, Zika virus infection, arboviruses, microcephaly, congenital infection, adverse outcome, travel-associated, children, neonate, mother-to-child transmission, Pediatrics, Perinatology and Child Health, Bacterial Infections and Mycoses::Infection::Pregnancy Complications, Infectious [DISEASES], Infants nadons, Virus Diseases::Arbovirus Infections::Zika Virus Infection [DISEASES], Other subheadings::Other subheadings::/complications [Other subheadings], Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecea360eb798fde1c18d56d8722961eTest
https://pubmed.ncbi.nlm.nih.gov/36291474Test -
4
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, Rodríguez-Revenga, Laia
المساهمون: Institut Català de la Salut, [Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E] Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain. ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain. [Guillén-Navarro E] Hospital Virgen de la Arrixaca, Murcia, Spain. [Rosell J] Hospital Son Espases, Palma de Mallorca, Spain. [del Campo M] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, FIBHULP Auchan Reserch Project
المصدر: Scientia
Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Feمصطلحات موضوعية: Identification, Rearrangements, intellectual disabilities (ID), 22q13.3 deletion syndrome, Subtelomeric deletion syndrome, Microarray, Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variations [PHENOMENA AND PROCESSES], subtelomeric deletion syndrome, Autistic behavior, Association, Clinical characterization, Shank3 gene, Spectrum, Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], SHANK3, Genetics (clinical), enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::trastornos cromosómicos [ENFERMEDADES], fenómenos genéticos::variación genética::polimorfismo genético::variación estructural genómica::variaciones del número de copias de ADN [FENÓMENOS Y PROCESOS], autistic behavior, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Polimorfisme genètic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders [DISEASES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Cromosomes humans - Anomalies, Phelan-McDermid syndrome (PMS), Molecular characterization, 22q13 deletion syndrome, Intellectual disabilities (ID), Molecular Medicine, Malalties congènites, Abnormalities, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0060498848b2f7b4c4e187fa0c8a878dTest
https://hdl.handle.net/11351/8829Test -
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المؤلفون: Xabier Elorza-Vidal, Alfons Macaya, Anna Marcé-Grau, Anna Ruiz-Nel Lo, Raúl Estévez, Júlia Sala-Coromina, Carla Pérez-Rius, Elisabet Gabau
المساهمون: Institut Català de la Salut, [Marcé-Grau A, Sala-Coromina J] Grup de Recerca en Neurologia Pediàtrica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Elorza-Vidal X] Physiology Unit, Department of Physiological Sciences, Genes Disease and Therapy Program, IDIBELL‐Institute of Neurosciences, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain. Rare Disease Network Research Center (CIBERER), ISCIII, Spain. [Pérez-Rius C] Physiology Unit, Department of Physiological Sciences, Genes Disease and Therapy Program, IDIBELL‐Institute of Neurosciences, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain. [Ruiz‐Nel·lo A] Genetics Laboratory, Institut d'Investigació i Innovació Parc Taulí I3PT, UDIAT‐Centre Diagnòstic, Parc Taulí Hospital Universitari, Universitat Autònoma de Barcelona, Sabadell, Spain. [Gabau E] Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Institut de Neurociència, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Movement disorders, Autism Spectrum Disorder, técnicas de investigación::técnicas genéticas::análisis de secuencias::análisis de secuencias de ADN::análisis de mutaciones del ADN [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Biology, Bioinformatics, Epilepsy, Neurodevelopmental disorder, Locus heterogeneity, Intellectual Disability, Neurologia pediàtrica - Malalties, Intellectual disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Exome sequencing, Seqüència de nucleòtids, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Receptor, Muscarinic M1, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Mutació (Biologia), Mutation (Biology), medicine.disease, Receptors, Muscarinic, Epilèpsia, Neurodevelopmental Disorders, Autism spectrum disorder, Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Mutation, Female, medicine.symptom, Genètica del desenvolupament, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27c3a775c5c1f08d8c6040de8e77b75Test
http://hdl.handle.net/2445/179340Test -
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المؤلفون: Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
المساهمون: UAM. Departamento de Medicina, Institut Català de la Salut, [Tenorio-Castaño J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. [Morte B] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. [Nevado J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Martinez-Glez V] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Santos-Simarro F] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [García-Miñaúr S] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Valenzuela I, Tizzano E] Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Cuscó I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientiaمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, PACS1 Gene, Medicina, Medizin, Intellectual disability, Disease, 030105 genetics & heredity, Pathogenic variant c.607C > T, QH426-470, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Trastorns neuroconductuals - Aspectes genètics, Very frequent, 03 medical and health sciences, Neurodevelopmental disorder, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, Medicine, Craniofacial, education, rare disorders, PACS1, Genetics (clinical), education.field_of_study, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Deficiència mental - Aspectes genètics, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Congenital malformations, Schuurs-Hoeijmakers syndrome, medicine.disease, pathogenic variant c.607C > T, 030104 developmental biology, intellectual disability, Phosphofurin acidic cluster sorting protein 1, Schuurs–Hoeijmakers syndrome, Rare disorders, Phospho-furin acidic cluster sorting protein 1, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY], Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], Pathogenic variant c.607C > phosphofurin acidic cluster sorting protein 1
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166aTest
https://www.mdpi.com/2073-4425/12/5/738Test -
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المؤلفون: Agatha Schlüter, Cyril Goizet, Miquel Raspall-Chaure, Almudena Chacón, Mehdi Benkirane, Lisa Pavinato, Agustí Rodríguez-Palmero, Isabelle Rouvet, Irene de la Calle, Francesco Saettini, Carlos Casasnovas, Michel Koenig, Vincent Michaud, Júlia Sala-Coromina, Melanie O’Leary, Emily O'Heir, Aurora Pujol, Alfons Macaya, Chiara Fossati, Precilla de Souza, Alfredo Brusco, David R. Adams, Heather C Mefford, Luis González Gutiérrez-Solana, Valentina Vélez-Santamaría, Maria Iascone, Estibaliz Barredo, Agathe Roubertie, Francesco Canonico, Anna Marcé-Grau, Giorgia Mandrile, Edgard Verdura, Heidi L. Rehm, Montserrat Ruiz, Laura Planas-Serra
المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Català de la Salut, [Verdura E, Planas-Serra L] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [Rodríguez-Palmero A] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Catalonia, Spain. [Vélez-Santamaria V] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, Universitat de Barcelona, L’Hospitalet de Llobregat, Barcelona, Spain. [de la Calle I] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. [Raspall-Chaure M] Grup de Recerca en Neurologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Brain
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Scientiaمصطلحات موضوعية: Male, Mielina - Malalties - Aspectes genètics, [SDV]Life Sciences [q-bio], medicine.disease_cause, 0302 clinical medicine, Malalties hereditàries, PI4KA, hypomyelinating leukodystrophy, inborn errors of metabolism, phosphoinositol, spastic paraplegia, Child, Exome, 0303 health sciences, Mutation, Pediatria, medicine.diagnostic_test, AcademicSubjects/SCI01870, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Malalties del sistema nerviós central, Metabolic disorder, Human brain, Phenotype, Pedigree, Blot, Phosphotransferases (Alcohol Group Acceptor), medicine.anatomical_structure, Child, Preschool, Female, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades desmielinizantes hereditarias del sistema nervioso central [ENFERMEDADES], Genetic disorders, Central nervous system diseases, Adult, Adolescent, Health Occupations::Medicine::Pediatrics [DISCIPLINES AND OCCUPATIONS], Biology, Immunofluorescence, Minor Histocompatibility Antigens, 03 medical and health sciences, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, profesiones sanitarias::medicina::pediatría [DISCIPLINAS Y OCUPACIONES], Alleles, 030304 developmental biology, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Leukodystrophy, Infant, Newborn, Genetic Variation, Infant, Original Articles, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Hereditary Central Nervous System Demyelinating Diseases [DISEASES], medicine.disease, Sistema nerviós - Malalties - Aspectes genètics, Hereditary Central Nervous System Demyelinating Diseases, Neurodevelopmental Disorders, Leukocytes, Mononuclear, Cancer research, AcademicSubjects/MED00310, Neurology (clinical), 030217 neurology & neurosurgery, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1969607f15890df5b654bdfd6ef362Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769Test -
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المؤلفون: Bertrand Isidor, Irene Valenzuela, Cyril Mignot, Wendy K. Chung, Haluk Kavus, Arnold Munnich, Madison Garrity, Austin Larson, Gary A. Bellus, Sara Reed, Marta Rojas-Vasquez
المساهمون: Institut Català de la Salut, [Garrity M] Columbia University School of Dental Medicine, New York, New York 10032, USA. [Kavus H] Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA. [Rojas-Vasquez M] Department of Pediatric Hematology-Oncology, Stollery Children's Hospital, Edmonton, Alberta T6G 2B7, Canada. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Larson A] Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado 80045, USA. [Reed S] Clinical Genetics and Genomic Medicine, Geisinger Health System, Danville, Pennsylvania 17821, USA, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Cold Spring Harbor Molecular Case Studiesمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, aminoácidos, péptidos y proteínas::proteínas::fosfoproteínas [COMPUESTOS QUÍMICOS Y DROGAS], severe microcephaly, Neuropsychological Tests, Young Adult, Neurodevelopmental disorder, Loss of Function Mutation, Intellectual disability, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Medical history, Amino Acids, Peptides, and Proteins::Proteins::Phosphoproteins [CHEMICALS AND DRUGS], Child, severe global developmental delay, Exome sequencing, Leukemia, Fosfoproteïnes, Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Neurobiologia del desenvolupament - Malalties, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], General Medicine, Phosphoproteins, medicine.disease, Hypotonia, Phenotype, Follow-up Report, intellectual disability, Neurodevelopmental Disorders, Autism spectrum disorder, Child, Preschool, Failure to thrive, Female, medicine.symptom, Trastorns del desenvolupament - Aspectes genètics, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bfa795b518209cecc5aca0d055498deTest
https://doi.org/10.1101/mcs.a006092Test -
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المؤلفون: Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Raspall Chaure, Miquel, Macaya Ruíz, Alfons
المساهمون: Institut Català de la Salut, [Salpietro V] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy. [Dixon CL, Bello OD] Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK. [Guo H] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China. [Vandrovcova J] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. [Efthymiou S] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK. [Raspall-Chaure M, Macaya A] Servei de Neurologia Pediatrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain., Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)مصطلحات موضوعية: Trastornos Mentales::Trastornos del Neurodesarrollo [PSIQUIATRÍA Y PSICOLOGÍA], Otros calificadores::Otros calificadores::/genética [Otros calificadores], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Mutació (Biologia), Proteïnes de membrana, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Ligand-Gated Ion Channels::Receptors, Ionotropic Glutamate::Receptors, AMPA [CHEMICALS AND DRUGS], Trastorns del desenvolupament - Aspectes genètics, Aminoácidos, Péptidos y Proteínas::Proteínas::Proteínas Portadoras::Proteínas de Transporte de Membrana::Canales Iónicos::Canales Iónicos Activados por Ligandos::Receptores Ionotrópicos de Glutamato::Receptores AMPA [COMPUESTOS QUÍMICOS Y DROGAS], fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS], aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras::proteínas de transporte de membrana::canales iónicos::canales iónicos de apertura por ligandos::receptores ionotrópicos de glutamato::receptores AMPA [COMPUESTOS QUÍMICOS Y DROGAS], Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::23b3475507d2de1b4c32fed4919b9242Test
http://hdl.handle.net/11351/4256Test