Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous
System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an …
System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an …
[HTML][HTML] Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
G Pelayo, MP Coelho, J Correia, A Bandeira… - Neurobiology of …, 2024 - Elsevier
Mitochondrial glutamyl-aminoacyl tRNA synthetase deficiency, stemming from biallelic
mutations in the EARS2 gene, was first described in 2012. With< 50 cases reported globally …
mutations in the EARS2 gene, was first described in 2012. With< 50 cases reported globally …
Identification of EARS2 as a Potential Biomarker with Diagnostic, Prognostic, and Therapeutic Implications in Colorectal Cancer
L Wang, X Deng, J Tang, Y Gong, S Bu… - ImmunoTargets and …, 2025 - Taylor & Francis
Purpose Colorectal cancer (CRC) is a prevalent malignancy, and lactate metabolism
significantly influences tumorigenesis and progression. This study identifies key genes …
significantly influences tumorigenesis and progression. This study identifies key genes …
Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients
M Bahar Ister, M Cinar, S Ceylaner… - Molecular …, 2024 - karger.com
Introduction: Combined oxidative phosphorylation deficiency-12 (COXPD12) is a rare
autosomal recessive disorder. Neurological findings and lactic acidosis can be presenting …
autosomal recessive disorder. Neurological findings and lactic acidosis can be presenting …