Eduardo de Estephan

Eduardo de Paula Estephan

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Eduardo de Estephan

Eduardo de Paula Estephan

Publications by authors named "Eduardo de Paula Estephan"

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1PubMed Central Citations

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

Hum Mutat 2019 Oct 23;40(10):1797-1812. Epub 2019 Jun 23.

Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23792DOI Listing
October 2019

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Neuromuscul Disord 2018 11 5;28(11):961-964. Epub 2018 Sep 5.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.007DOI Listing
November 2018

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Can J Neurol Sci 2017 Jan 17;44(1):125-127. Epub 2016 Oct 17.

6Departamento de NeurologiaFaculdade de Medicina,Universidade de São PauloAvenida Dr. Enéas de Carvalho Aguiar 2555 andar,sala 5131,Cerqueira Cesar05403-900,Sao Paulo,Brazil.

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http://dx.doi.org/10.1017/cjn.2016.322DOI Listing
January 2017