Novel EEF1D Splice Variant Behind Severe Neurodevelopmental Disorder in Iranian Siblings
Whole exome sequencing in a consanguineous Iranian family has identified a novel homozygous splice junction loss variant in EEF1D in ...
Tag: consanguinity
Metabolic disorders mimic hereditary spastic paraplegia in Egyptian children
A cross-sectional study of 10 Egyptian children and adolescents found that inherited metabolic disorders can mimic hereditary spastic paraplegia and ...
Novel COL6A1 Gene Variant Linked to Rare Muscle Disorder in Child
A novel homozygous COL6A1 variant classified as uncertain has been linked to classic Ullrich congenital muscular dystrophy in a three-year-old ...
Rare Genetic Syndrome Unmasked by Sudden Kidney Failure in Young Woman
A case report from Lahore describes a 27-year-old woman whose sudden kidney failure revealed both advanced undiagnosed chronic kidney disease ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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