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1دورية أكاديمية
المؤلفون: Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, Gabriela Ferraz Leal, Têmis Maria Felix, Denise Pontes Cavalcanti, Juan Clinton Llerena, Sayonara Gonzalez
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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المؤلفون: Sayonara Gonzalez, Maria Celia C Zuma, Fernanda Rolemberg G Riba, Maria E.S. Gomes, Juan C. Llerena, Natana Chaves Rabelo, Andre Luiz Mencalha
المصدر: Genetic Testing and Molecular Biomarkers. 25:674-682
مصطلحات موضوعية: Thanatophoric dysplasia, Chemistry, Hypochondroplasia, General Medicine, Fibroblast growth factor receptor 3, medicine.disease, Molecular biology, Rapid detection, High Resolution Melt, medicine, In patient, Achondroplasia, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9a23a5283524253e68710c0f1b5c697Test
https://doi.org/10.1089/gtmb.2020.0330Test -
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المؤلفون: Natana Chaves Rabelo, Maria Eduarda Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer, Guilherme Loss de Morais, Deborah Antunes, Ernesto Raúl Caffarena, Juan Llerena Jr, Sayonara Gonzalez
المصدر: The Application of Clinical Genetics.
مصطلحات موضوعية: The Application of Clinical Genetics, Genetics, Genetics (clinical)
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3cfa7bb0b73b2833eb2c7df2275befdTest
https://www.dovepress.com/rasopathy-cohort-of-patients-enrolled-in-a-brazilian-reference-center--peer-reviewed-fulltext-article-TACGTest -
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المؤلفون: Fernanda Rolemberg G, Riba, Maria E S, Gomes, Natana Chaves, Rabelo, Maria Celia C, Zuma, Juan C, Llerena, André Luiz, Mencalha, Sayonara, Gonzalez
المصدر: Genetic testing and molecular biomarkers. 25(10)
مصطلحات موضوعية: Male, Adolescent, DNA Mutational Analysis, Infant, Newborn, Limb Deformities, Congenital, Infant, Dwarfism, Bone and Bones, Achondroplasia, Child, Preschool, Mutation, Lordosis, Humans, Receptor, Fibroblast Growth Factor, Type 3, Female, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8b4219db8c7ab1be30503fc1bac3d6d9Test
https://pubmed.ncbi.nlm.nih.gov/34672771Test -
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المؤلفون: Dafne Horovitz, Juan C. Llerena, Maria E.S. Gomes, Maria Teresa Vieira Sanseverino, Gabriela Ferraz Leal, Ernesto Raul Caffarena, Deborah Antunes, Têmis Maria Félix, Denise P. Cavalcanti, Valeria R. Moura, Sayonara Gonzalez, Luiza Calatrava Paternostro
المصدر: Molecular Syndromology. 10:255-263
مصطلحات موضوعية: Genetics, In silico, Biology, medicine.disease, Hypoplasia, Dysplasia, medicine, Cartilage–hair hypoplasia, Hypotrichosis, Gene, Genetics (clinical), Immunodeficiency, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d37e3556a4ad42fb025e6a3db84b070dTest
https://doi.org/10.1159/000501892Test -
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المؤلفون: Thays Cristine dos Santos Vieira, Guilherme Loss de Morais, Joseane Biso de Carvalho, Natana Chaves Rabelo, Ana Tereza Ribeiro de Vasconcelos, Juan C. Llerena, Sayonara Gonzalez
المصدر: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, RAS-MAPK, Biology, LEOPARD Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Costello syndrome, Genetics, medicine, Gene, RASopathies, Genetics (clinical), Exome sequencing, Original Research, miRNA, Legius syndrome, variants, whole-exome-sequencing, medicine.disease, Phenotype, body regions, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, embryonic structures, Molecular Medicine, Noonan syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434ba54cb1dfcac349881044635ee607Test
https://www.frontiersin.org/article/10.3389/fgene.2019.01144/fullTest -
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المؤلفون: Fernando Maia Peixoto-Filho, Maria Elisabeth Lopes Moreira, Sayonara Gonzalez, Elizabeth Soares da Silva Magalhães, Maria Dalva Barbosa Baker Méio, Ana Carolina Carioca da Costa
المصدر: European journal of pediatrics. 179(8)
مصطلحات موضوعية: Gestational hypertension, Adult, Male, medicine.medical_specialty, Adolescent, Birth weight, Adipokine, Intrauterine growth restriction, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Adipokines, Pregnancy, Risk Factors, 030225 pediatrics, Internal medicine, medicine, Maternal hypertension, Humans, 030212 general & internal medicine, Prospective Studies, business.industry, Infant, Newborn, Gestational age, Hypertension, Pregnancy-Induced, medicine.disease, Fetal Blood, Ghrelin, Endocrinology, Cord blood, Case-Control Studies, Pediatrics, Perinatology and Child Health, Infant, Small for Gestational Age, Linear Models, Premature Birth, Female, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4624b35bb3c1a66b5c11af7d14f76e6eTest
https://pubmed.ncbi.nlm.nih.gov/32062709Test -
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المؤلفون: Fernanda Rolemberg G Riba, Denise P. Cavalcanti, Natana Chaves Rabelo, Maria Celia C Zuma, Natálya G. Pereira, Maria Teresa Vieira Sanseverino, Thatiane Yoshie Kanazawa, Sayonara Gonzalez, Maria E.S. Gomes, Dafne Dain Gandelman Horovitz, Juan C. Llerena
المصدر: Molecular Syndromology. 9:92-99
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, Mutation, Thanatophoric dysplasia, Hypochondroplasia, Biology, medicine.disease, medicine.disease_cause, High Resolution Melt, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Dysplasia, symbols, medicine, Achondroplasia, Genotyping, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d3ba88a18a244c48034cec8b8806aba4Test
https://doi.org/10.1159/000486697Test -
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المؤلفون: Maria E, Gomes, Luiza, Calatrava Paternostro, Valéria R, Moura, Deborah, Antunes, Ernesto R, Caffarena, Dafne, Horovitz, Maria T, Sanseverino, Gabriela, Ferraz Leal, Têmis M, Felix, Denise, Pontes Cavalcanti, Juan, Clinton Llerena, Sayonara, Gonzalez
المصدر: Mol Syndromol
مصطلحات موضوعية: Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7055c7e6c6dd44f86baca6f996d9cfa4Test
https://pubmed.ncbi.nlm.nih.gov/32021596Test -
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المؤلفون: Maria E S, Gomes, Thatiane Y, Kanazawa, Fernanda R, Riba, Natálya G, Pereira, Maria C C, Zuma, Natana C, Rabelo, Maria T, Sanseverino, Dafne D G, Horovitz, Juan C, Llerena, Denise P, Cavalcanti, Sayonara, Gonzalez
المصدر: Molecular syndromology. 9(2)
مصطلحات موضوعية: Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0c96d616feea1bfb55a1e78372f9828cTest
https://pubmed.ncbi.nlm.nih.gov/29593476Test