Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Biomed Research International|July 3, 2015
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart DefectsKaren Regina de Souza, Rafaella Mergener, Janaina Huber, et al.
Cell Biochemistry and Function|September 12, 2024
What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 MicroduplicationRafaella Mergener, Lívia Polisseni Cotta Nascimento, Ana Kalise Böttcher, et al.
Neuromolecular Medicine|October 7, 2019
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph DiseaseRafaella Mergener, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, et al.
Molecular Syndromology|October 9, 2025
Genetic Analysis Strategy for Diagnosing Congenital Heart DiseaseNatasha Malgarezi de Moraes, Bruna Lixinski Diniz, Ana Kalise Böttcher, et al.
Biomed Research International|May 4, 2018
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn SyndromeThiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|January 22, 2025
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genesAna Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, et al.
Genes|July 27, 2024
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical ConsequencesRafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|September 11, 2024
Turner syndrome and neuropsychological abnormalities: a review and case seriesBruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, et al.
Journal of Neurology|March 11, 2025
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10Ali Hasan, Gabriel Vasata Furtado, Elaine Miglorini, et al.
Genes|August 26, 2023
16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?Lívia Polisseni Cotta Nascimento, Rafaella Mergener, Marcela Rodrigues Nunes, et al.
Pageof 2