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EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome.
J Clin Immunol. 2022 Jul;42(5):952-954. doi: 10.1007/s10875-022-01266-w. Epub 2022 Apr 7.
J Clin Immunol. 2022.
PMID: 35389122
No abstract available.
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
Barreda Fierro R, Herrera Mora P, Zenteno JC, Villarroel Cortés CE.
Barreda Fierro R, et al. Among authors: villarroel cortes ce.
Neuromuscul Disord. 2020 Dec;30(12):986-990. doi: 10.1016/j.nmd.2020.10.003. Epub 2020 Oct 20.
Neuromuscul Disord. 2020.
PMID: 33187793
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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT, Belles RS, Salbert BA, Wentzensen IM, Guillen Sacoto MJ, Santos FJR, Caffo A, Ferla M, Banos-Pinero B, Pawliczak K, Makvand M, Najmabadi H; Genomics England Research Consortium; Maroofian R, Lester T, Yanez-Felix AL, Villarroel-Cortes CE, Xia F, Al Fayez K, Al Hashem A, Shears D, Irving M, Offiah AC, Kariminejad A, Taylor JC.
Pagnamenta AT, et al. Among authors: villarroel cortes ce.
Clin Genet. 2023 Jul;104(1):121-126. doi: 10.1111/cge.14324. Epub 2023 Mar 10.
Clin Genet. 2023.
PMID: 36896672
Free PMC article.
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[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM, Martinez-Montoya V, Sandoval-Pacheco R, Torres-Octavo B, Anaya-Castro DM, Padilla-de la Torre O, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes Cruz A, Kazakova E, Martinez-Segovia RI, Olmos-Morfin D, Radillo-Díaz PF, Solís-Sánchez I, Vázquez Del Mercado-Espinosa M, Villarroel-Cortés CE, Velarde-Félix JS.
Sánchez-Sánchez LM, et al. Among authors: villarroel cortes ce.
Rev Neurol. 2022 Sep 1;75(5):103-108. doi: 10.33588/rn.7505.2022227.
Rev Neurol. 2022.
PMID: 35880963
Free PMC article.
Spanish.
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Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.
Salas-Labadía C, Gómez-Carmona S, Cruz-Alcívar R, Martínez-Anaya D, Del Castillo-Ruiz V, Durán-McKinster C, Ulloa-Avilés V, Yokoyama-Rebollar E, Ruiz-Herrera A, Navarrete-Meneses P, Lieberman-Hernández E, González-Del Angel A, Cervantes-Barragán D, Villarroel-Cortés C, Reyes-León A, Suárez-Pérez D, Pedraza-Meléndez A, González-Orsuna A, Pérez-Vera P.
Salas-Labadía C, et al. Among authors: villarroel cortes c.
Orphanet J Rare Dis. 2019 Nov 15;14(1):259. doi: 10.1186/s13023-019-1208-0.
Orphanet J Rare Dis. 2019.
PMID: 31730496
Free PMC article.
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