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  • May

Month: May 2024

Editorial Team Featured articles Journal

Editorial Team – Vol 2 Num 1 2024

May 13, 2024
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Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…

Academic activities Editorial

Awareness of rare genetic diseases in daily clinical practice

May 13, 2024
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Author: Jorge D. Méndez-Ríos1

Featured articles Journal

Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic

May 13, 2024
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Authores: Katlin De La Rosa Poueriet1, Andrea Irina Servalle Mella2, Bary Bigay Mercedes3

Featured articles Journal

Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report

May 13, 2024
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Authors: Juan Manuel Sánchez-Vargas1, Lina Johanna Moreno Giraldo1

Featured articles Journal

Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene

May 13, 2024
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Authors: Enrique Daniel Austin-Ward1, Jean Villegas2

Featured articles Journal

Membranous nephropathy: genetics, antigens and antibodies

May 13, 2024
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Authors: Karen Courville1, Norman Bustamante2

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