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Activities

Employment (1)

ICON plc: São Paulo, São Paulo, BR

2022-03 to present | Clinical Research Associate II
Employment
Source: Self-asserted source
Bruna Diniz

Education and qualifications (3)

Universidade Federal de Ciências da Saúde de Porto Alegre: Porto Alegre, RS, BR

2020-08 to present | Doutoranda em Patologia: Genética (Serviço de Genética Clínica)
Qualification
Source: Self-asserted source
Bruna Diniz

Universidade Federal de Ciências da Saúde de Porto Alegre: Porto Alegre, RS, BR

2018-03-01 to 2020-05-20 | Mestre em Patologia: Genética (Serviço de Genética Clínica )
Qualification
Source: Self-asserted source
Bruna Diniz

Centro Universitário Metodista IPA: Porto Alegre, RS, BR

2010-03-01 to 2015-07-22 | Biomedicina
Education
Source: Self-asserted source
Bruna Diniz

Works (8)

Turner syndrome and neuropsychological abnormalities: a review and case series

Revista Paulista de Pediatria
2025 | Journal article
Contributors: Bruna Baierle Guaraná; Marcela Rodrigues Nunes; Victória Feitosa Muniz; Bruna Lixinski Diniz; Maurício Rouvel Nunes; Ana Kalise Böttcher; Rafael Fabiano Machado Rosa; Rafaella Mergener; Paulo Ricardo Gazzola Zen
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Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome

International Journal of Molecular Sciences
2024-07-19 | Journal article
Contributors: Desirée Deconte; Bruna Lixinski Diniz; Jéssica K. Hartmann; Mateus A. de Souza; Laira F. F. Zottis; Paulo Ricardo Gazzola Zen; Rafael F. M. Rosa; Marilu Fiegenbaum
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Preferred source (of 2)‎

22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders

Molecular Syndromology
2023 | Journal article
Contributors: Maiara A. Floriani; Andressa S. Santos; Bruna L. Diniz; Andressa B. Glaeser; Paulo R. Gazzola Zen; Rafael F. Machado Rosa
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Crossref

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Revista Paulista de Pediatria
2023 | Journal article
Contributors: Bianca Soares Carlotto; Desirée Deconte; Bruna Lixinski Diniz; Priscila Ramires da Silva; Paulo Ricardo Gazzola Zen; André Anjos da Silva
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Crossref

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

Journal of Pediatric Genetics
2023-06 | Journal article
Contributors: Bruna Lixinski Diniz; Desirée Deconte; Kerolainy Alves Gadelha; Andressa Barreto Glaeser; Bruna Baierle Guaraná; Andreza Ávila de Moura; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
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Crossref

DIFICULDADES ENCONTRADAS NA EXECUÇÃO DE UM PROGRAMA DE EXTENSÃO EM PALHAÇARIA NO PERÍODO DE DISTANCIAMENTO SOCIAL

Expressa Extensão
2020-12-29 | Journal article
Contributors: Bruna Lixinski Diniz; Amanda Berlinck Da Silva; Fernanda Górski; Isabella Silva Moraes; Elizabeth De Carvalho Castro
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Crossref

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Journal of Pediatric Genetics
2020-12-17 | Journal article
Contributors: Bruna Lixinski Diniz; Andressa Schneiders Santos; Andressa Barreto Glaeser; Bruna Baierle Guaraná; Cláudia Fernandes Lorea; Juliana Alves Josahkian; Janaína Huber; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
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Crossref

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

American Journal of Medical Genetics Part A
2020-11 | Journal article
Contributors: Andressa Barreto Glaeser; Andressa Schneiders Santos; Bruna Lixinski Diniz; Desireé Deconte; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
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Crossref