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1دورية أكاديمية
المؤلفون: Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques
المصدر: Endocrine Connections, Vol 11, Iss 12, Pp 1-10 (2022)
مصطلحات موضوعية: idiopathic short stature, multigene sequencing analysis, genetic, mutation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca
المصدر: Clinics, Vol 75 (2020)
مصطلحات موضوعية: Next Generation Sequencing, Database, Mendelian Disorders, Brazil, Population Genetics, Medicine (General), R5-920
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z. Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R. Carvalho
المصدر: Genes, Vol 12, Iss 8, p 1128 (2021)
مصطلحات موضوعية: GH1, SOX3, TGIF1, hypopituitarism, allelic variants, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Vania Balderrama Brondani, Luciana Montenegro, Amanda Meneses Ferreira Lacombe, Breno Marchiori Magalhães, Mirian Yumie Nishi, Mariana Ferreira de Assis Funari, Amanda de Moraes Narcizo, Lais Cavalca Cardoso, Sheila Aparecida Coelho Siqueira, Maria Claudia Nogueira Zerbini, Francisco Tibor Denes, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Madson Queiroz Almeida, Antonio Marcondes Lerario, Ibere Cauduro Soares, Maria Candida Barisson Villares Fragoso
المصدر: Cancers, Vol 12, Iss 3, p 621 (2020)
مصطلحات موضوعية: adrenal tumor, dna mismatch repair, tp53, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: Einstein (São Paulo), Vol 3, Iss 2, Pp 127-129 (2005)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: http://www.einstein.br/revista/biblioteca/artigos/vol3/num_2/Vol3_N2_P127.pdf; https://doaj.org/toc/1679-4508
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6
المؤلفون: Bruna Lucheze Freire, Thais Kataoka Homma, Antônio Marcondes Lerario, Go Hun Seo, Heonjong Han, Mariana Ferreira de Assis Funari, Nathalia Lisboa Gomes, Carla Rosemberg, Ana Cristina Victorino Krepischi, Gabriela de Andrade Vasques, Alexsandra Christianne Malaquias, Alexander Augusto de Lima Jorge
المصدر: American Journal of Medical Genetics Part A. 188:2599-2604
مصطلحات موضوعية: Exome Sequencing, Infant, Newborn, Genetics, Birth Weight, Humans, Infant, Infant, Very Low Birth Weight, Dwarfism, Child, Growth Disorders, Genetics (clinical), Epigenesis, Genetic
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7
المؤلفون: Nathalia Lisboa Gomes, Rafael Loch Batista, Mirian Y Nishi, Antônio Marcondes Lerário, Thatiana E Silva, Amanda de Moraes Narcizo, Anna Flávia Figueredo Benedetti, Mariana Ferreira de Assis Funari, José Antônio Faria Junior, Daniela Rodrigues Moraes, Lia Mesquita Lousada Quintão, Luciana Ribeiro Montenegro, Maria Teresa Martins Ferrari, Alexander A Jorge, Ivo J P Arnhold, Elaine Maria Frade Costa, Sorahia Domenice, Berenice Bilharinho Mendonca
المصدر: The Journal of clinical endocrinology and metabolism. 107(5)
مصطلحات موضوعية: Male, Disorder of Sex Development, 46,XY, Endocrinology, Diabetes and Metabolism, Sexual Development, Biochemistry (medical), Clinical Biochemistry, High-Throughput Nucleotide Sequencing, Gonadal Dysgenesis, Biochemistry, Cohort Studies, Endocrinology, Mutation, Humans, Female, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f3fa3672563f496f4634f939d0bc8c
https://pubmed.ncbi.nlm.nih.gov/35254448 -
8
المؤلفون: Mariana Ferreira de Assis Funari
المساهمون: Alexander Augusto de Lima Jorge, Denise Pontes Cavalcanti, Cristiane Kochi
المصدر: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USPURL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75cf2dba20aebfb341c228ac3dab28a0
https://doi.org/10.11606/t.5.2019.tde-16102019-103652 -
9
المؤلفون: Mariana Ferreira de Assis Funari
المساهمون: Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Cleide Largman Borovik
المصدر: Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USPURL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf3c887935609da0c3cb8133e75603a
https://doi.org/10.11606/d.5.2009.tde-09022010-174156