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1دورية أكاديمية
المؤلفون: Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M. Repetto
المصدر: Genes, Vol 12, Iss 1, p 92 (2021)
مصطلحات موضوعية: 22q11.2 deletion syndrome, mtDNA heteroplasmy, congenital defects, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Mariana del Pino, Victoria Huckstadt, Francisca Diaz‐Gonzalez, Maria Gabriela Obregon, Karen E. Heath, Virginia Fano
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Maria Gabriela Obregon, Abel Gomez, Luis Pablo Gravina, Josefina Chinton, Victoria Huckstadt
المصدر: American Journal of Medical Genetics Part A. 185:1256-1260
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, integumentary system, Ichthyosis, business.industry, Macrocephaly, Loose anagen hair, 030105 genetics & heredity, medicine.disease, Phenotype, Dermatology, Growth hormone deficiency, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Noonan syndrome, Attention deficit hyperactivity disorder, medicine.symptom, business, Gene, Genetics (clinical)
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المؤلفون: Roxana Marino, Guillermo Notaristefano, Natalia Perez Garrido, Viviana Balbi, Alicia Belgorosky, Angélica Moresco, Maria Gabriela Obregon, Ianina Soria, Pablo Ramírez, Elisa Vaiani, Maria Sol Touzon, Gabriela Finkielstain
المصدر: The Journal of Clinical Endocrinology & Metabolism. 106:e2789-e2802
مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, 030209 endocrinology & metabolism, Context (language use), Biochemistry, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Congenital adrenal hyperplasia, Allele, education, Sanger sequencing, education.field_of_study, business.industry, Biochemistry (medical), medicine.disease, Phenotype, 030104 developmental biology, Ehlers–Danlos syndrome, symbols, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8822f37bba4748c40a0c52fb0f6260ff
https://doi.org/10.1210/clinem/dgab033 -
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المؤلفون: Juan M. Sendoya, Adriana Fandiño, Andrea S. Llera, Sofía H Vidal, Maria Gabriela Obregon, Marcela D. Mena, Osvaldo L. Podhajcer, Diana Aguilar-Cortes, Angélica Moresco
المصدر: Frontiers in Genetics, Vol 12 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Geneticsمصطلحات موضوعية: ABCA4 GENE, 0301 basic medicine, Proband, lcsh:QH426-470, ABCA4, Biology, medicine.disease_cause, LATIN AMERICA, 03 medical and health sciences, ABCA4 gene, 0302 clinical medicine, STARGARDT DISEASE, purl.org/becyt/ford/3.2 [https], Genetics, medicine, Allele, MUTATION, Gene, Genetics (clinical), Original Research, Mutation, next-generation sequencing – NGS, NEXT-GENERATION SEQUENCING – NGS, Retrospective cohort study, medicine.disease, Stargardt disease, lcsh:Genetics, 030104 developmental biology, Latin America, Cohort, 030221 ophthalmology & optometry, biology.protein, Molecular Medicine, purl.org/becyt/ford/3 [https], mutation
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6808844444a394248a79edd382931f3f
https://www.frontiersin.org/articles/10.3389/fgene.2021.646058/full -
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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
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المؤلفون: Giuseppe Zampino, Anwar Baban, Fanny Kortüm, Antonio Novelli, Kerstin Kutsche, Marcello Niceta, Roberta Onesimo, Chiara Leoni, Katja Dumić Kubat, Maria Cristina Digilio, Monia Magliozzi, Maria Gabriela Obregon, Marco Tartaglia, Maria Lisa Dentici, Stephen P. Robertson, Angélica Moresco
مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, Cantú syndrome, Adult, Male, medicine.medical_specialty, Zimmermann–Laband syndrome, Zimmermann-Laband syndrome, ABCC9, potassium chanelopathies, Mutation, Missense, Cardiomegaly, 030105 genetics & heredity, Osteochondrodysplasias, Sulfonylurea Receptors, Craniofacial Abnormalities, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Gain-of-function, Potassium channel, Child, Genetics (clinical), Fibromatosis, Gingival, Coarse facial features, business.industry, Macrocephaly, Infant, General Medicine, Aplasia, Middle Aged, medicine.disease, Dermatology, Hypoplasia, 030104 developmental biology, Phenotype, Coarse face, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Female, medicine.symptom, business, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392783b53c15a635029e109c55b5ac55
http://hdl.handle.net/10807/166647 -
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المؤلفون: Jesica Galeano, Roxana Marino, Elisa Vaiani, Angela Moresco, Alicia Belgorosky, Viviana Herzovich, Maria Sol Touzon, Fabiana Lubieniecki, Noelia Dujovne, Maria Gabriela Obregon, Mariana Costanzo, Pablo Ramírez, Guillermo Chantada, Natalia Perez Garrido, Sofia Trobo
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: How Genetics and Development Impact the Endocrine System, business.industry, Somatic cell, Endocrinology, Diabetes and Metabolism, Cancer research, DICER1 Gene, Medicine, business, Germline, Genetics and Development (including Gene Regulation), Paediatric patients
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6d065884fa08daff4502bb69584622
https://doi.org/10.1210/js.2019-sun-047 -
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المصدر: Archivos Argentinos de Pediatria. 116
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Medial cleft lip, PAI SYNDROME, 030206 dentistry, Choroidal osteoma, Lipoma, Corpus callosum, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Vertebral segmentation defect, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, Medicine, Nasal polyps, business, Congenital disorder
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d6bbaf991657292c90bb48a5a83261b2
https://doi.org/10.5546/aap.2018.e336 -
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المصدر: Archivos Argentinos de Pediatria. 113
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Kidney, Body proportions, Respiratory distress, business.industry, Anthropometry, medicine.disease, Short stature, Asphyxiating thoracic dysplasia, medicine.anatomical_structure, Radiological weapon, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, Respiratory system, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd0150746c0102ddfe126f9e8844740f
https://doi.org/10.5546/aap.2015.e357