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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Mol Syndromol. 2021 Jul;12(4):250-257. doi: 10.1159/000515081. Epub 2021 Jun 17.
Mol Syndromol. 2021.
PMID: 34421504
Free PMC article.
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Córdova-Fletes C, Rivera H, Aguayo-Orozco TA, Martínez-Jacobo LA, Garza-González E, Robles-Espinoza CD, Basurto-Lozada P, Avalos-Gómez HG, Esparza-García E, Domínguez-Quezada MG.
Córdova-Fletes C, et al. Among authors: esparza garcia e.
Eur J Med Genet. 2022 Oct;65(10):104579. doi: 10.1016/j.ejmg.2022.104579. Epub 2022 Aug 3.
Eur J Med Genet. 2022.
PMID: 35933106
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[Breast cancer in males, case presentation and literature review].
Fabián-Estrada E, Flores-Rangel GA, Mosiñoz-Montes R, Núñez-Trenado LA, Esparza-García E, Carballido-Barrita CA.
Fabián-Estrada E, et al. Among authors: esparza garcia e.
Rev Med Inst Mex Seguro Soc. 2018 Nov 30;56(4):424-428.
Rev Med Inst Mex Seguro Soc. 2018.
PMID: 30521157
Spanish.
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