Concepedia

Eduardo de Paula Estephan

ED

Statistics

Publications

11

Citations

349

H-Index

11

Active since

2016

Affiliations

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(Current)

Children's Hospital of Eastern Ontario

Universidade de São Paulo

Centro Nacional de Análisis Genómico

Hospital Santa Marcelina

Eduardo de Paula Estephan is an author at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo specializing in molecular genetics, genetics, and human genetics.

ORCID

Publications per year

2016–2023

11

Publications

11

Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes

Antônio Edvan Camelo-Filho, André Macedo Serafim da Silva, Eduardo de Paula Estephan et al. · Frontiers in Neurology · 2020 · 105 citations · Full text

, , +17

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan et al. · Brain · 2019 · 50 citations · Full text

, , +17

Clinical and molecular findings in a cohort of <i>ANO5</i>‐related myopathy

André Macedo Serafim da Silva, Antônio R. Coimbra‐Neto, Paulo Victor Sgobbi de Souza et al. · Annals of Clinical and Translational Neurology · 2019 · 41 citations · Full text

, , +12

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Rachel Thompson, Anastasios Papakonstantinou, Sergi Beltrán et al. · Human Mutation · 2019 · 29 citations

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Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

Eduardo de Paula Estephan, Antônio Alberto Zambon, Rachel Thompson et al. · European Journal of Neurology · 2021 · 26 citations

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