Bruna Lixinski Diniz

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 12

Top Topics

Systematic Review

Postmenopausal Women

Aortic Valve Replacement

Top Venues

Journal of pediatric genetics

International journal of molecular sciences

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Bruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Bruna Lixinski Diniz, Mauricio Rouvel Nunes, Ana Kalise Böttcher da Silveira, Rafael Fabiano Machado Rosa, Rafaella Mergener, Paulo Ricardo Gazzola Zen
Turner syndrome and neuropsychological abnormalities: a review and case series. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 43 (2024)
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
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. International journal of molecular sciences 25 (14) (2024)
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
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. International journal of molecular sciences 25 (14) (2024)
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
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. International journal of molecular sciences 25 (14) (2024)
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
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. International journal of molecular sciences 25 (14) (2024)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Bianca Soares Carlotto, Desireé Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva
Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 42 (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Andressa Barreto Glaeser, Andressa Schneiders Santos, Bruna Lixinski Diniz, Desireé Deconte, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review. American journal of medical genetics. Part A 182 (11) (2020)
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
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil. Journal of pediatric genetics 9 (4) (2020)