Background: Poor ovarian response and diminished ovarian reserves (DOR) significantly contribute to female infertility. Previous attempts have been made to enhance follicular growth and improve pregnancy outcomes in these participants.
Objective: This study aimed to assess the efficacy of the in vitro drug-free activation technique of the ovarian reservation and in vitro fertilization stimulation cycle outcomes in DOR participants.
Background And Objective: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode of inheritance within multiplex consanguineous families. However, these aspects remain less elucidated within simplex families.
View Article and Find Full Text PDFGlycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs.
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