المؤلفون: Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

مصطلحات موضوعية: cis‐regulatory elements, genetic diagnosis, spastic paraplegia 11, SPG11, whole transcriptome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2

المؤلفون: Jesus Pujol, Raquel Fenoll, Núria Ribas-Vidal, Gerard Martínez-Vilavella, Laura Blanco-Hinojo, Javier García-Alba, Joan Deus, Ramón Novell, Susanna Esteba-Castillo

المصدر: NeuroImage: Clinical, Vol 18, Iss , Pp 160-166 (2018)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221315821830024X; https://doaj.org/toc/2213-1582

URL الوصول: https://doaj.org/article/88823cc2ac1048e7ba579c953f413f85

المؤلفون: Susanna Esteba-Castillo, Javier García-Alba, David Torrents-Rodas, Ramon Novell-Alsina, Núria Ribas-Vidal

المصدر: Revista de Psiquiatría y Salud Mental. 11:141-150

مصطلحات موضوعية: 030506 rehabilitation, 03 medical and health sciences, Psychiatry and Mental health, 05 social sciences, 0501 psychology and cognitive sciences, 0305 other medical science, Psychology, Humanities, 050104 developmental & child psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7384ff9b40b077884341ded13e290576
https://doi.org/10.1016/j.rpsm.2016.11.002

المؤلفون: Anna Ruiz, Lourdes Martorell, Elisabet Vilella, David Torrents-Rodas, Susanna Esteba-Castillo, Lluís Armengol, Marina Viñas-Jornet, Núria Ribas-Vidal, Neus Baena, Miriam Guitart, Elisabeth Gabau, Ramon Novell

المصدر: Behavior Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Genotype, Intellectual disability, Comorbidity, Behavioural disorders, Genetic analysis, Statistics, Nonparametric, Young Adult, 03 medical and health sciences, Genetics, Humans, Medicine, Prospective Studies, Copy-number variation, Psychiatry, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Oligonucleotide Array Sequence Analysis, Original Research, Copy number variants, Adult patients, business.industry, Incidence, Mental Disorders, Middle Aged, medicine.disease, Co morbid, Phenotype, 030104 developmental biology, Spain, Cohort, Female, High incidence, Psychiatric disorders, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7fee3b6f3f351501d4b38d18ff67644
https://doi.org/10.1007/s10519-018-9902-6

المؤلفون: Nick Bass, Griet Van Buggenhout, Nathalie Brison, Marina Viñas-Jornet, Ramon Novell, Andre Strydom, Núria Ribas-Vidal, Johan H. Thygesen, Susanna Esteba-Castillo, Annick Vogels, Andrew McQuillin, Kate Wolfe, Miriam Guitart Feliubadaló

المصدر: European Neuropsychopharmacology. 29:S856-S857

مصطلحات موضوعية: Pharmacology, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, education.field_of_study, medicine.medical_specialty, business.industry, Genetic counseling, Population, medicine.disease, Psychiatry and Mental health, Neurology, Schizophrenia, Angelman syndrome, mental disorders, Medicine, Autism, Pharmacology (medical), Neurology (clinical), Copy-number variation, business, education, Psychiatry, Biological Psychiatry, Psychiatric genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef372abafbb21a0f4d65c62772aa7815
https://doi.org/10.1016/j.euroneuro.2017.08.135

المؤلفون: Joan Deus, Susana Solá, Rafael de la Torre, Mara Dierssen, Susanna Esteba-Castillo, Ramón Novell-Alsina, Gonzalo Sánchez-Benavides, Javier García-Alba, Raquel Fenoll, Núria Ribas-Vidal, Gerard Martínez-Vilavella, Jesús Pujol

المصدر: Journal of Alzheimer's disease : JAD. 57(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Down syndrome, Aging, Adolescent, Physiology, Brain mapping, White matter, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Fractional anisotropy, Neural Pathways, medicine, Dementia, Humans, medicine.diagnostic_test, business.industry, General Neuroscience, Neurodegeneration, Brain, Magnetic resonance imaging, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, medicine.anatomical_structure, Diffusion Tensor Imaging, Female, Geriatrics and Gerontology, Down Syndrome, business, 030217 neurology & neurosurgery, Diffusion MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b43e07c362f515797c1ffbe2e398e64
https://pubmed.ncbi.nlm.nih.gov/28222523

المؤلفون: Marina Viñas-Jornet, Núria Ribas-Vidal, Maria Dolors Coll, Anna Ruiz, Miriam Guitart, Susanna Esteba-Castillo, Ramon Novell, Elisabeth Gabau, Joan San, Neus Baena

المصدر: Molecular Genetics & Genomic Medicine
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
© Molecular Genetics and Genomics, 2014 (August 18), 10 p.
Articles publicats (D-CM)
Viñas Jornet, Marina Esteba Castillo, Susanna Gabau, Elisabeth Ribas Vidal, Núria Baena, Neus San Molina, Juan Lorenzo Ruiz, Anna Coll, Maria Dolors Novell, Ramon Guitart, Miriam 2014 A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion Molecular Genetics and Genomics
DUGiDocs – Universitat de Girona
instname
Recercat. Dipósit de la Recerca de Catalunya

مصطلحات موضوعية: medicine.medical_specialty, Intellectual disability, Mentally ill, dysexecutive syndrome, Dysexecutive syndrome, Borderline intellectual functioning, Genetics, medicine, anxiety disorder, Bipolar disorder, Psychiatry, Molecular Biology, Genetics (clinical), 2p16.3 deletion, business.industry, Trastorns d'ansietat, Original Articles, medicine.disease, Penetrance, Schizophrenia, intellectual disability, Anxiety disorder, Autism, Malalts mentals, business, Anxiety disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf76d6d68c72c687badeeab18a69764
https://ddd.uab.cat/record/185244

المؤلفون: Susanna, Esteba-Castillo, Albert, Dalmau-Bueno, Núria, Ribas-Vidal, Marta, Vilà-Alsina, Ramon, Novell-Alsina, Javier, García-Alba

المصدر: Revista de neurologia. 57(8)

مصطلحات موضوعية: Adult, Intelligence Tests, Male, Observer Variation, Psychometrics, Reproducibility of Results, Middle Aged, Translating, Severity of Illness Index, Cross-Sectional Studies, Spain, Intellectual Disability, Surveys and Questionnaires, Humans, Female, Down Syndrome, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c1e50e1b78537fc5d4923c746f760f17
https://pubmed.ncbi.nlm.nih.gov/24081888

المؤلفون: Susanna Esteba-Castillo, Marta Vilà-Alsina, Ramon Novell-Alsina, Núria Ribas-Vidal, Albert Dalmau-Bueno, Javier García-Alba

المصدر: Revista de Neurología. 57:337

مصطلحات موضوعية: Spanish population, Validation study, S syndrome, Multicenter study, Neurology (clinical), General Medicine, Psychology, Older people, Observer variation, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5612334ffc74b9745d27c7b71000322
https://doi.org/10.33588/rn.5708.2013259