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1دورية أكاديمية
المؤلفون: M. Roussel, M. Pirotte, R. Gounot, K. Queru, O. Rizzo, B. Royer, S. Harel, E. Desport, A. Huart, M. Niault, L. Karlin, O. Decaux, T. Chalopin, B. Carpentier, M. Macro, M. Vignon, E. Chalayer, AM. Stoppa, F. Bridoux, A. Jaccard
المصدر: HemaSphere, Vol 7, Iss S2, Pp 4-4 (2023)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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2
المؤلفون: N Cho, J Squair, N James, L Baud, A Leonhartsberger, K Sveistyte, K Galan, Q Barraud, M Goubran, L Batti, S Pages, M Gautier, T Hutson, C Kathe, A Bichat, O Rizzo, M Hodara, J Bloch, G Courtine
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49:S40-S41
مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine
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3دورية أكاديمية
المؤلفون: Anna Letícia Soares, Maria Tereza I. Pinto, Isabela M. P. O. Rizzo, Mônica M. M. Navarro, Walquíria D. Mello, Caio A. Mendonça, Carlos E. S. Martins, Jaime M. Brum
المصدر: Revista Brasileira de Hematologia e Hemoterapia, Vol 32, Iss 2, Pp 131-135 (2010)
مصطلحات موضوعية: Glicosilação, trombofilia, fatores de coagulação sanguínea, Glycosylation, thrombophilia, blood coagulation factors, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000200012; https://doaj.org/toc/1516-8484; https://doaj.org/toc/1806-0870
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4
المؤلفون: Francineide Sadala de Souza, Osvaldo J. M. Nascimento, Daniel R. Carvalho, Savana Camilla Santos, Maria Cristina Del Negro Barroso Freitas, Eduardo Uchoa Cavalcanti, Carlos Eduardo Speck Martins, Denise da Silva Freitas, Isabela M. P. O. Rizzo, Altamir Monteiro Junior
المصدر: Journal of the peripheral nervous system : JPNSREFERENCES. 26(3)
مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, symbols.namesake, Charcot-Marie-Tooth Disease, SH3TC2, Internal medicine, Gene duplication, Epidemiology, Medicine, Humans, Genetic Testing, education, Retrospective Studies, Sanger sequencing, education.field_of_study, business.industry, General Neuroscience, Proteins, Retrospective cohort study, Genetic Profile, medicine.disease, Mutation, symbols, Neurology (clinical), business, Hereditary motor and sensory neuropathy, Multiplex Polymerase Chain Reaction
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5
المؤلفون: Carlos E. Speck-Martins, Ana Luiza Villa a Coelho, Nilo Sakai, Kikue Terada Abe, Daniel R. Carvalho, Isabela M. P. O. Rizzo
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ectodermal dysplasia, congenital, hereditary, and neonatal diseases and abnormalities, Ectrodactyly, business.industry, Case Report, General Medicine, Case Reports, developmental disabilities, 030105 genetics & heredity, medicine.disease, Dermatology, Phenotype, chromosome 19q13.11 deletion syndrome, ectodermal dysplasia, 03 medical and health sciences, stomatognathic diseases, 030104 developmental biology, intellectual disability, Intellectual disability, mental disorders, medicine, business
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6دورية أكاديمية
المؤلفون: Naomi G Iwata, Matilda Pham, Norma O Rizzo, Andrew M Cheng, Ezekiel Maloney, Francis Kim
المصدر: PLoS ONE, Vol 6, Iss 12, p e29600 (2011)
وصف الملف: electronic resource
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7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9
المؤلفون: Reinaldo I. Takata, Jaime M. Brum, Savana Camilla Lima Santos, Claudio Sollaci, Carlos E. Speck-Martins, Isabela M. P. O. Rizzo
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Osteochondromatosis, Adolescent, genotype, multiple osteochondromas, Population, Biology, N-Acetylglucosaminyltransferases, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Brazilian population, Genotype, Genetics, Prevalence, Missense mutation, Humans, education, Child, Molecular Biology, Genetics (clinical), Aged, Sequence Deletion, Sanger sequencing, education.field_of_study, chondrosarcoma, Splice site mutation, Base Sequence, Genetic heterogeneity, Point mutation, EXT2, Exons, Original Articles, Middle Aged, EXT1, 030104 developmental biology, 030220 oncology & carcinogenesis, Child, Preschool, Mutation, symbols, Female, Original Article, Brazil, Exostoses, Multiple Hereditary
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المؤلفون: Austin M. Rountree, Sarah A. White, Francis Kim, Dan S. Luciani, Ian R. Sweet, Jared Radtke, Mark Lisowski, Adam S. Neal, Christiane S. Hampe, Norma O. Rizzo
المصدر: Journal of Biological Chemistry. 289:19110-19119
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, chemistry.chemical_element, Stimulation, In Vitro Techniques, Mitochondrion, Calcium, Biochemistry, Rats, Sprague-Dawley, Islets of Langerhans, Metabolic Diseases, Internal medicine, Insulin Secretion, medicine, Animals, Insulin, Glycolysis, Calcium Signaling, Molecular Biology, Calcium signaling, Dose-Response Relationship, Drug, biology, Cytochrome c, Cytochromes c, Fasting, Cell Biology, Metabolism, Keto Acids, Mitochondria, Rats, Oxygen, Protein Transport, Glucose, Endocrinology, chemistry, biology.protein, Energy Metabolism, Oxidation-Reduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f30e21db6de1f5f54d97c760906469
https://doi.org/10.1074/jbc.m114.556050