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Post-implantation analysis of genomic variations in the progeny from develo** fetus to birth
The analysis of genomic variations in offspring after implantation has been infrequently studied. In this study, we aim to investigate the extent of de...
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The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe
BackgroundResearch indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up,...
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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes
BackgroundThe genetic background of cancer remains complex and challenging to integrate. Many somatic mutations within genes are known to cause and...
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Cytogenomic description of a Mexican cohort with differences in sex development
BackgroundDifferences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex...
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Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
BackgroundChildhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed...
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Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients
In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout...
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Effect of α7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1β in the process of physiological root resorption of deciduous teeth
AbstractPhysiological root resorption of deciduous teeth is a normal phenomenon occurring during the developmental stages of children. Previous...
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Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer
Germline mutations in BRCA1 and BRCA2 (g BRCA1/2 ) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2−) advanced breast...
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First Insight into the Phylogenetic Diversity of Bovicola caprae Infesting Goats of Different Agro-climatic Locations in India
Bovicola caprae is an important obligate ectoparasite of goats worldwide including India. The present study aimed at the molecular confirmation,...
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Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...
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Gut Microbiota in Primary Osteoporosis: a Systematic Review
The link between gut microbiota (GM) and primary osteoporosis has garnered substantial attention. In this study, we conducted a systematic review...
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Optimization of Total DNA Extraction from Dried Blood Samples
While dried blood spots are a convenient source of genetic material, they are usually associated with a lower DNA yield than from a native sample....
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