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Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Neuropediatrics. 2021 Oct;52(5):390-393. doi: 10.1055/s-0040-1715625. Epub 2020 Dec 22.
Neuropediatrics. 2021.
PMID: 33352606
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG, Moreno CAM, Artilheiro MDC, Fonseca ATQM, Gurgel Gianetti J, Barbosa AV, Donis KC, Saute JAM, Pessoa A, Van der Linden H Jr, Gonçalves ARA, Kulikowski LD, Kok F, Zanoteli E.
Camelo CG, et al. Among authors: gurgel gianetti j.
Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15.
Clin Genet. 2024.
PMID: 38747280
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Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.
Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM.
Watson CM, et al. Among authors: gurgel gianetti j.
Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22.
Hum Mutat. 2015.
PMID: 26037133
Free PMC article.
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Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP, Santos TO, Izidoro-Toledo TC, Gurgel-Gianetti J, Espreafico EM.
Meschede IP, et al. Among authors: gurgel gianetti j.
Braz J Med Biol Res. 2008 Oct;41(10):839-48. doi: 10.1590/s0100-879x2008001000002.
Braz J Med Biol Res. 2008.
PMID: 19030707
Free article.
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