المؤلفون: Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100733- (2021)

مصطلحات موضوعية: Mitochondrial diseases, MELAS, Leigh syndrome, Molecular diagnosis, Pediatrics, Mitochondrial DNA, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000276; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6

المؤلفون: Hilda Verónica Aráoz, S Monges, J. Mozzoni, F. De Castro, Luis Pablo Gravina, V. Aguerre

المصدر: Journal of Neuromuscular Diseases. 7:453-458

مصطلحات موضوعية: medicine.medical_specialty, Argentina, Spinal Muscular Atrophies of Childhood, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Respiratory system, Survival analysis, business.industry, Infant, Spinal muscular atrophy, Hospitals, Pediatric, medicine.disease, Respiration, Artificial, Natural history, Neurology, Respiratory failure, Cohort, Disease Progression, Breathing, Nusinersen, Neurology (clinical), Respiratory Insufficiency, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6bd9b769e8e30a26b1047e91b1066b
https://doi.org/10.3233/jnd-200508

المؤلفون: Cristina N. Alonso, Maria Saccoliti, Hernán Eiroa, Hilda Verónica Aráoz, Ana Lia Taratuto, Maria Gabriela Obregon, Gimena Gomez, Mariana Loos, Carlos Rugilo, Lía Mayorga, Fabiana Lubieniecki, Roberto Caraballo

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)

مصطلحات موضوعية: Medicine (General), Mitochondrial DNA, medicine.medical_specialty, QH301-705.5, Mitochondrial disease, Mitochondrial diseases, Gastroenterology, Pediatrics, R5-920, Endocrinology, Mitochondrial myopathy, Internal medicine, Genetics, medicine, Biology (General), Myopathy, Molecular Biology, Muscle biopsy, medicine.diagnostic_test, Genetic heterogeneity, business.industry, medicine.disease, Leigh syndrome, MELAS, Myoclonic epilepsy, Molecular diagnosis, medicine.symptom, Chronic progressive external ophthalmoplegia, business, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9cb593f34ea269824d9d582ab495c00
http://europepmc.org/articles/PMC7933530

المؤلفون: P. Gravina, F. De Castro, I. Esteban, J. Mozzoni, M.S. Monges, Hilda Verónica Aráoz, Y. Cantillo, V. Aguerre

المصدر: A26. PEDIATRIC SLEEP I.

مصطلحات موضوعية: Spinal muscular atrophy type I, Pediatrics, medicine.medical_specialty, business.industry, Breathing, Medicine, business, Middle income country

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7f6a47f14702ef4721303a4fc76fef9
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1164

المؤلفون: Silvina Mariel Richard, Belén Cerliani, Lilien Chertkoff, Hilda Verónica Aráoz, Irene Larripa, Alejandro Roisman, Ariela Freya Fundia, Irma Slavutsky, Natalia Weich

المصدر: Annals of Human Biology. 44:379-383

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Aging, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Physiology, Epidemiology, Population, Genética Humana, Argentina, Pharmacogenetic Markers, Biology, Young Adult, 03 medical and health sciences, GSTP1, 0302 clinical medicine, Genetics, Humans, Child, education, Aged, Glutathione Transferase, Aged, 80 and over, education.field_of_study, Polymorphism, Genetic, Argentinian Population, Public Health, Environmental and Occupational Health, Human Variability, Middle Aged, Glutathione S-Transferases, Medicina Básica, 030104 developmental biology, Glutathione S-Transferase pi, Child, Preschool, 030220 oncology & carcinogenesis, Drug metabolising enzymes, Female, Gene polymorphism, Polymorphisms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a996fbec6d58a4f91fab6c62de5c39f9
https://doi.org/10.1080/03014460.2016.1259429

المؤلفون: Gabriela Reyes, Cristina N. Alonso, Gabriel Veneruzzo, Mariana Loos, Francisco Martin Garcia, Gimena Gomez, Matias Juanes, Hilda Verónica Aráoz, Lilien Chertkoff, Roberto Caraballo

المصدر: Epilepsy & Behavior. 111:107322

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genetic counseling, Argentina, Epilepsies, Myoclonic, Electroencephalography, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Dravet syndrome, medicine, Humans, 030212 general & internal medicine, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, West Syndrome, Sequence Analysis, DNA, Amplicon, medicine.disease, Magnetic Resonance Imaging, Molecular Diagnostic Techniques, Neurology, Mutation, Etiology, Female, Neurology (clinical), Age of onset, business, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc6f4867d11ddf9bf961f69867ea12a
https://doi.org/10.1016/j.yebeh.2020.107322

المؤلفون: María del Valle Torrado, M. F. de Castro Perez, Luis Pablo Gravina, Lilien Chertkoff, Hilda Verónica Aráoz, Edgardo M Baialardo, María Eugenia Foncuberta

المصدر: Pediatrics. 131:e544-e549

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Genotype, Cross-sectional study, Genética Humana, MEDLINE, Gene Expression, Comorbidity, Congenital Abnormalities, Cohort Studies, Genomic Imprinting, Sex Factors, Sex factors, Genetics, Humans, Medicine, Child, Retrospective Studies, Chromosomes, Human, Pair 15, business.industry, Follow up studies, Retrospective cohort study, Uniparental Disomy, medicine.disease, Medicina Básica, Cross-Sectional Studies, Phenotype, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, business, Prader-Willi Syndrome, Congenital defects in PWS, Follow-Up Studies, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ea825182d02d49f4fc931e3144e38f
https://doi.org/10.1542/peds.2012-1103

المؤلفون: Luis Pablo Gravina, Eduardo F. Tizzano, Angélica Moresco, Laura Alias, Hilda Verónica Aráoz, Julieta Mozzoni, Sara Bernal, Soledad Monges, Lilien Chertkoff, Sofía Medrano

المصدر: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, Male, Survival motor neuron 2 gene (SMN2), Gene Dosage, Small EDRK-rich factor 1A (SERF1A), SMN1, 030105 genetics & heredity, Spinal Muscular Atrophies of Childhood, Bioinformatics, Cohort Studies, 0302 clinical medicine, Genotype, Age of Onset, Child, Genetics, Neuronal apoptosis inhibitory protein gene (NAIP), General Medicine, SMA, Neuronal Apoptosis-Inhibitory Protein, Survival of Motor Neuron 2 Protein, Medicina Básica, Phenotype, Child, Preschool, Disease Progression, Female, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Inmunología, Argentina, Locus (genetics), Nerve Tissue Proteins, Biology, 03 medical and health sciences, Young Adult, medicine, Humans, Multiplex ligation-dependent probe amplification, Retrospective Studies, Small EDRK-rich factor 1A (SERFIA), Spinal muscular atrophy, Multiplex Ligation-dependent Probe Amplification (MLPA), medicine.disease, Spinal muscular atrophy (SMA), Survival of Motor Neuron 1 Protein, Pediatrics, Perinatology and Child Health, Neurology (clinical), NAIP, Survival motor neuron 1 gene (SMN1), Age of onset, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f27fed49bb248106285762f771b299
https://pubmed.ncbi.nlm.nih.gov/27510309

المؤلفون: Marisa Felice, María Eugenia Foncuberta, Christian German Sanchez La Rosa, Lilien Chertkoff, Hilda Verónica Aráoz, Karina D'Aloi, Cristina N. Alonso

المصدر: Leukemialymphoma. 56(5)

مصطلحات موضوعية: Oncology, Male, Cancer Research, medicine.medical_specialty, Adolescent, Argentina, Neutropenia, Polymorphism, Single Nucleotide, Internal medicine, Genotype, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Child, Genotyping, Methylenetetrahydrofolate Reductase (NADPH2), Leukopenia, Thiopurine methyltransferase, biology, business.industry, Genetic Variation, Infant, Hematology, Methyltransferases, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Survival Analysis, Pharmacogenetics, Methylenetetrahydrofolate reductase, Child, Preschool, Immunology, biology.protein, Methotrexate, Female, medicine.symptom, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529cce93e2b08c9b360aaf4bc1c76d28
https://pubmed.ncbi.nlm.nih.gov/25110820