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

Relation: https://ec.bioscientifica.com/view/journals/ec/11/12/EC-22-0214.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/46443fe98cf943f5b3ad2294e1be10d0

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

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322020000100260&tlng=en; http://www.scielo.br/pdf/clin/v75/1807-5932-clin-75-e1913.pdf; https://doaj.org/toc/1980-5322

URL الوصول: https://doaj.org/article/a3a74911a39240788ce158a7327501af

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

Relation: https://www.mdpi.com/2073-4425/12/8/1128; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/d8ff6882d7414dcfa0681cf8c0025a8a

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

Relation: https://www.mdpi.com/2072-6694/12/3/621; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/c27555ee83184097a43573bec107c48c

المؤلفون: Nydia Strachman Bacal, Mariana Ferreira de Assis Funari

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

URL الوصول: https://doaj.org/article/53958664066349d48e97b3445d22d6e1

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c7e510086eb9e9b72bb90210f8e3a6
https://doi.org/10.1002/ajmg.a.62892

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

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:USP

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75cf2dba20aebfb341c228ac3dab28a0
https://doi.org/10.11606/t.5.2019.tde-16102019-103652

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:USP

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf3c887935609da0c3cb8133e75603a
https://doi.org/10.11606/d.5.2009.tde-09022010-174156