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YEAR 2024 VOLUME 2 ISSUE 1
YEAR 2024 VOLUME 2 ISSUE 1
Published:
2024-04-30
Editorial Board
Editorial Team - Vol 2 Num 1 2024
Journal Genetics and Clinical Genomics
Editorial
Awareness of rare genetic diseases in daily clinical practice
Jorge D. Méndez-Ríos
1-2
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Original research
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
Katlin De La Rosa Poueriet, Andrea Irina Servalle Mella, Bary Bigay Mercedes
3-7
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Case report
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Juan Manuel Sánchez-Vargas, Lina Johanna Moreno Giraldo
8-15
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Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
Enrique Daniel Austin-Ward, Jean Villegas
16-22
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Literature Review
Membranous nephropathy: genetics, antigens and antibodies
Karen Courville, Norman Bustamante
23-28
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