Month: <span>December 2024</span>
Month: December 2024

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

Mol Syndromol. 2024 Dec;15(6):450-463. doi: 10.1159/000539034. Epub 2024 Jun 17. ABSTRACT INTRODUCTION: Mitochondrial DNA depletion syndromes (MDDSs) are a group of clinically and genetically heterogeneous …

Effect of the COVID-19 vaccination on feto-maternal outcomes: A prospective cohort study among Indian pregnant women

Indian J Med Res. 2024 Sep&Oct;160(3&4):371-378. doi: 10.25259/IJMR_1014_2024. ABSTRACT Background & objectives Studies on the effects of COVID-19 vaccination among pregnant women in Asian settings, …

Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient

Indian J Dermatol Venereol Leprol. 2024 Nov 30:1-4. doi: 10.25259/IJDVL_623_2024. Online ahead of print. NO ABSTRACT PMID:39635787 | DOI:10.25259/IJDVL_623_2024