Publications by authors named "Luiza Ramos"

9Publications

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

Brain Dev 2020 Oct 7;42(9):691-695. Epub 2020 Aug 7.

Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.

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http://dx.doi.org/10.1016/j.braindev.2020.05.003DOI Listing
October 2020

ATP6V1B2-related epileptic encephalopathy.

Epileptic Disord 2020 Jun;22(3):317-322

Mendelics Genomic Analysis,, Department of Neurology, University of São Paulo School of Medicine.

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http://dx.doi.org/10.1684/epd.2020.1166DOI Listing
June 2020

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.

J Mol Diagn 2020 08 1;22(8):1041-1049. Epub 2020 Jun 1.

Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.05.007DOI Listing
August 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Isolated Central Nervous System Vasculitis as a Manifestation of Neurosarcoidosis.

J Stroke Cerebrovasc Dis 2016 Jun 12;25(6):e89-92. Epub 2016 Apr 12.

Institute of Neurology Deolindo Couto, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2016.02.036DOI Listing
June 2016

Microarray as a new tool to study hypertrophic and keloid scarring.

Wounds 2009 Feb;21(2):57-63

Rua Napoleao dee Barros, Sao Paulo, Brazil; Email:

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February 2009