Chronic feeding of 1‐O‐octadecyl‐sn‐glycerol (batyl alcohol) to patients suffering from
congenital deficiency in tissue ether glycerolipids showed an increase in the plasmalogens�…

We report seven infants of diabetic mothers, affected with holoprosencephaly malformation
sequence. An additional 15 cases assembled from personal communications and the�…

Through a multi-center collaboration study, we here report six individuals from five unrelated
families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five�…

Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies�…

Background Neuroinflammation—astrogliosis, microglial activation, and changes in cytokine
signaling—is a prominent feature of neurodegenerative disorders. Glaucoma is a group of�…

Over the last several decades, two circumpolar Indigenous peoples—the Canadian Inuit and
the Norwegian S�mi—have made great strides in developing innovative governance�…

The clinical significance of low numbers of aneuploid cells in routine cytogenetic studies of
cultured lymphocytes is not always clear. We compared the frequencies of chromosome loss�…

Abstract Background/Purpose The increasing prevalence of abdominal wall defects
prompted analysis of anomalies associated with gastroschisis and omphalocele in the�…

As the UN Decade on Ecosystem Restoration begins, there remains insufficient emphasis
on the human and social dimensions of restoration. The potential that restoration holds for�…

Axon degeneration can arise from metabolic stress, potentially a result of mitochondrial
dysfunction or lack of appropriate substrate input. In this study, we investigated whether the�…