Josiane Souza

4PUBLICATIONS
14CO-AUTHORS
Rural clinical healthGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Jan 08, 2025
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.

Everson Andrade de Carvalho, Roberto Del Claro Hopker, Gustavo Henrique Pedroso

|Jul 31, 2023
Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.

Gustavo Moura da Mata Machado Ferreira Pinto, Solena Ziemer Kusma Fidalski, Mara Lúcia Schmidt Ferreira Santos

|Jun 22, 2023
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Jarosław Dulski, Josiane Souza, Mara Lúcia Santos

|Mar 04, 2022
BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.

Josiane Souza, Daniel Almeida do Valle, Mara Lucia Schmidt Ferreira Santos

Pageof 1

Frequent Collaborators

3 joint publications

Daniel Almeida do Valle

2 joint publications

Mara Lúcia Schmitz Ferreira Santos

1 joint publications

Gustavo Moura da Mata Machado Ferreira Pinto

1 joint publications

Solena Ziemer Kusma Fidalski