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Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
Genes (Basel). 2023 Dec 14;14(12):2212. doi: 10.3390/genes14122212.
Genes (Basel). 2023.
PMID: 38137034
Free PMC article.
The ESX-4 substrates, EsxU and EsxT, modulate Mycobacterium abscessus fitness.
Lagune M, Le Moigne V, Johansen MD, Vásquez Sotomayor F, Daher W, Petit C, Cosentino G, Paulowski L, Gutsmann T, Wilmanns M, Maurer FP, Herrmann JL, Girard-Misguich F, Kremer L.
Lagune M, et al. Among authors: vasquez sotomayor f.
PLoS Pathog. 2022 Aug 12;18(8):e1010771. doi: 10.1371/journal.ppat.1010771. eCollection 2022 Aug.
PLoS Pathog. 2022.
PMID: 35960766
Free PMC article.
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GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.
Trubnykova M, Bazalar Montoya J, La Serna-Infantes J, Vásquez Sotomayor F, Castro Mujica MDC, Abarca Barriga HH.
Trubnykova M, et al. Among authors: vasquez sotomayor f.
Mol Syndromol. 2019 Jul;10(4):186-194. doi: 10.1159/000499209. Epub 2019 Apr 16.
Mol Syndromol. 2019.
PMID: 31602190
Free PMC article.
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Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis.
Vásquez Sotomayor F, Abarca-Barriga HH.
Vásquez Sotomayor F, et al.
J Pediatr Genet. 2019 Sep;8(3):147-152. doi: 10.1055/s-0039-1678682. Epub 2019 Feb 13.
J Pediatr Genet. 2019.
PMID: 31406621
Free PMC article.
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