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Eco-friendly optical sensor membrane for nickel ion detection in water and food samples
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Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency
Published 2019-02-01“…In the studied population the three most frequent mutations of the researched ones, so far in the National Center of Medical Genetics of Havana to patients with congenital adrenal hyperplasia due to 21 OH insufficiency. …”
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The Role of Macrophages in the Pathogenesis of Celiac Disease
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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism
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Study on the correlation between serum IgG4/IgG levels and the development of Graves’ ophthalmopathy
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Toll-Like Receptor 4 in Bone Marrow-Derived Cells Contributes to the Progression of Diabetic Retinopathy
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing
Published 2025-01-01“…According to the guidelines of the American Society for Medical Genetics and Genomics (ACMG), the 22q13.33 microdeletion was classified as pathogenic, whereas the 12q24.33 microduplication was classified as a variant of uncertain significance (VUS). …”
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Applications of Amniotic Membrane and Fluid in Stem Cell Biology and Regenerative Medicine
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
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