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1دورية أكاديمية
المؤلفون: Pedro L. F. Costa, Monica M. França, Maria L. Katayama, Eduardo T. Carneiro, Regina M. Martin, Maria A. K. Folgueira, Ana C. Latronico, Bruno Ferraz-de-Souza
المصدر: Cells, Vol 8, Iss 4, p 318 (2019)
مصطلحات موضوعية: vitamin D, calcitriol, microarray, gene expression, CYP24A1, cell proliferation, Cytology, QH573-671
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Monica M França, Mariana F A Funari, Antonio M Lerario, Mariza G Santos, Mirian Y Nishi, Sorahia Domenice, Daniela R Moraes, Everlayny F Costalonga, Gustavo A R Maciel, Andrea T Maciel-Guerra, Gil Guerra-Junior, Berenice B Mendonca
المصدر: PLoS ONE, Vol 15, Iss 10, p e0240795 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Federico Salas-Lucia, Monica M. França, James A. Amrhein, J. Elizabeth Weir, Alexandra M. Dumitrescu, Samuel Refetoff
المصدر: Thyroid
مصطلحات موضوعية: Thyroid Hormone Resistance Syndrome, Thyroid Hormones, Thyroxine, Endocrinology, Brief Report, Endocrinology, Diabetes and Metabolism, Mutation, Thyroid Dysgenesis, Congenital Hypothyroidism, Humans, Thyrotropin, Thyroid Hormone Receptors beta
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df85daf940eb0e7fa4d30752e3c67bcc
https://doi.org/10.1089/thy.2021.0523 -
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المؤلفون: Antonio C. Bianco, Alina German, Samuel Refetoff, Xiao Hui Liao, Gustavo W. Fernandes, Monica M. França, Alexandra M. Dumitrescu
المصدر: Thyroid. 31:202-207
مصطلحات موضوعية: medicine.medical_specialty, Mutation, medicine.diagnostic_test, Endocrinology, Diabetes and Metabolism, Thyroid disease, Thyroid, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, medicine.disease, Thyroid function tests, Reverse triiodothyronine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Internal medicine, Iodothyronine deiodinase, medicine, Missense mutation, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31dd283cad76eef9b545b8f6842c6db5
https://doi.org/10.1089/thy.2020.0253 -
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المؤلفون: Monica M. França, Gustavo W. Fernandes, Alexandra M. Dumitrescu, Xiao Hui Liao, Samuel Refetoff, Alina German, Antonio C. Bianco
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Mutant, Thyroid, Biology, Thyroid function tests, Reverse triiodothyronine, chemistry.chemical_compound, Endocrinology, medicine.anatomical_structure, chemistry, Internal medicine, Iodothyronine deiodinase, medicine, Missense mutation, Gene, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d394d3b769216c88f01cc1a58115b24
https://doi.org/10.1530/ey.18.3.11 -
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المؤلفون: Theodora Pappa, Robert L. Levine, Gary D. Rothberger, Alexandra M. Dumitrescu, Sandra Ilaka-Chibuluzo, Samuel Refetoff, Monica M. França
المصدر: Thyroid. 30:640-642
مصطلحات موضوعية: musculoskeletal diseases, endocrine system, medicine.medical_specialty, endocrine system diseases, Somatic cell, Endocrinology, Diabetes and Metabolism, Thyroid, Tall Stature, Four quadrants, Biology, Endocrinology, Germline mutation, Gain of function, medicine.anatomical_structure, Internal medicine, Mutation (genetic algorithm), medicine, GNAS complex locus, biology.protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e1e089d0f8320f19bc056410a88e904c
https://doi.org/10.1089/thy.2019.0471 -
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المؤلفون: Sorahia Domenice, Mirian Yumie Nishi, Berenice B. Mendonca, Antonio M. Lerario, Xingfa Han, David Garcia-Galiano, Eveline Gadelha Pereira Fontenele, Carol F. Elias, Alexander A. L. Jorge, Mariana F A Funari, Monica M. França
المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:2827-2841
مصطلحات موضوعية: Male, 0301 basic medicine, Infertility, Heterozygote, medicine.medical_specialty, Adolescent, Litter Size, Endocrinology, Diabetes and Metabolism, Genetic counseling, Clinical Biochemistry, Mutation, Missense, Context (language use), Primary Ovarian Insufficiency, Biology, Bioinformatics, medicine.disease_cause, Biochemistry, Gene Knockout Techniques, Mice, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, Exome Sequencing, medicine, Animals, Humans, Missense mutation, Sexual Maturation, Child, Clinical Research Articles, Exome sequencing, Mutation, Point mutation, Forkhead Box Protein O3, Homozygote, Ovary, Biochemistry (medical), Female infertility, RNA Polymerase III, medicine.disease, Time-to-Pregnancy, 030104 developmental biology, Female, CRISPR-Cas Systems, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07440a7fa505d32cda68194f235a5a71
https://doi.org/10.1210/jc.2018-02485 -
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المؤلفون: Adriana M. Fernandes, Evelin Aline Zanardo, Antonio M. Lerario, Lucas Santos de Santana, Manuela G. M. Rocha-Braz, Bruno Ferraz-de-Souza, Leslie Domenici Kulikowski, Monica M. França, Regina Matsunaga Martin, Berenice B. Mendonca
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: idiopathic osteoporosis, 0301 basic medicine, Candidate gene, Endocrinology, Diabetes and Metabolism, Genome-wide association study, Context (language use), genetic analysis, 030105 genetics & heredity, Bioinformatics, Genetic analysis, 03 medical and health sciences, symbols.namesake, Commentaries, familial osteoporosis, Genetic predisposition, Medicine, Clinical Research Articles, Sanger sequencing, Massive parallel sequencing, business.industry, massively parallel sequencing, targeted massively parallel sequencing, bone fragility, 030104 developmental biology, symbols, candidate genes, business, AcademicSubjects/MED00250, SNP array
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c03304d51b91de7ee82346eb3d352f
https://doi.org/10.1210/jendso/bvaa148 -
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المؤلفون: Sorahia Domenice, Berenice B. Mendonca, Gustavo Arantes Rosa Maciel, Andréa Trevas Maciel-Guerra, Mariza Gerdulo Santos, Gil Guerra-Júnior, Monica M. França, Mirian Yumie Nishi, Antonio M. Lerario, Daniela Rodrigues de Moraes, Everlayny F. Costalonga, Mariana F A Funari
المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 10, p e0240795 (2020)مصطلحات موضوعية: 0301 basic medicine, Heredity, Physiology, Inheritance Patterns, Disease, Primary Ovarian Insufficiency, Bioinformatics, Genetic analysis, Biochemistry, Homozygosity, Cohort Studies, 0302 clinical medicine, Endocrinology, Animal Cells, Female Infertility, Medicine and Health Sciences, Medicine, Copy-number variation, Sanger sequencing, 030219 obstetrics & reproductive medicine, Multidisciplinary, Massive parallel sequencing, Heterozygosity, medicine.diagnostic_test, Nucleic acids, symbols, Female, Anatomy, Cellular Types, Brazil, Research Article, Adult, Adolescent, Patients, Science, Urology, DNA repair, 03 medical and health sciences, symbols.namesake, Young Adult, Genetics, Animals, Humans, Clinical significance, Genetic Testing, Genetic testing, Mouth, Endocrine Physiology, business.industry, Palate, Puberty, Biology and Life Sciences, Human Genetics, DNA, Cell Biology, Disease Models, Animal, 030104 developmental biology, Germ Cells, Infertility, Etiology, business, Digestive System
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المؤلفون: Berenice B. Mendonca, Monica M. França
المصدر: Best Practice & Research Clinical Endocrinology & Metabolism. 36:101594
مصطلحات موضوعية: endocrine system, Endocrinology, Diabetes and Metabolism, Genetic counseling, Cell Cycle Proteins, Nerve Tissue Proteins, Receptors, Cell Surface, Primary Ovarian Insufficiency, Biology, Amino Acyl-tRNA Synthetases, Fragile X Mental Retardation Protein, Endocrinology, FANCE, Basic Helix-Loop-Helix Transcription Factors, GNAS complex locus, Animals, Guanine Nucleotide Exchange Factors, Humans, FANCL, Genetic Testing, Ovarian Diseases, Adaptor Proteins, Signal Transducing, Mammals, Genetics, Microfilament Proteins, DNA Helicases, Membrane Proteins, Nuclear Proteins, RNA-Binding Proteins, Ubiquitin-Protein Ligase Complexes, Histone-Lysine N-Methyltransferase, FMR1, FANCA, DNA-Binding Proteins, MSH5, Exodeoxyribonucleases, CYP17A1, Mutation, Trans-Activators, biology.protein, Female, Receptors, Progesterone