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: microcephaly
Seven-year follow-up documents partial chromosome 19p duplication
A seven-year case study of a prenatal 19p13.3–p13.2 duplication found persistent developmental and growth problems alongside variable effects on hearing, ...
Clinical findings in 22 Turkish boys with MECP2 variants
A multicenter study of 22 Turkish boys found varied clinical presentations among MECP2 variants, but uncertain classifications and conflicting functional ...
Preterm Babies in Vietnam Face Rising Developmental Delay Risk in First Year, Study Finds
A prospective cohort study in Ho Chi Minh City found that nearly two-thirds of very and extremely preterm infants showed ...
New Atlas Maps the Gene Networks That Build the Human Brain
Researchers at the University of Wisconsin–Madison have built a cross-species atlas of gene regulatory networks governing early mammalian neurogenesis, revealing ...
Scientists Propose Framework to Test Whether Oropouche Virus Harms Fetuses
Researchers propose a combined experimental and epidemiological framework to determine whether Oropouche virus can cause vertical transmission and adverse fetal ...
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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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