Month: <span>October 2024</span>
Month: October 2024

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

Genet Med. 2024 Oct 2:101288. doi: 10.1016/j.gim.2024.101288. Online ahead of print. ABSTRACT PURPOSE: Despite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half …

Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development

Development. 2024 Oct 1;151(19):dev202705. doi: 10.1242/dev.202705. Epub 2024 Oct 4. ABSTRACT Sonic hedgehog (Shh) signaling regulates embryonic morphogenesis utilizing the primary cilium, the cell’s antenna, …

Association between consensus-based nutrition pathway and growth faltering in infants with gastroschisis: A retrospective cohort study

JPEN J Parenter Enteral Nutr. 2024 Oct 6. doi: 10.1002/jpen.2692. Online ahead of print. ABSTRACT BACKGROUND: The University of California Fetal Consortium published that 55% …

An exploratory study of functional brain activity associated with gross motor function improvement in children with unilateral cerebral palsy

Dev Neurorehabil. 2024 Oct 6:1-9. doi: 10.1080/17518423.2024.2410184. Online ahead of print. ABSTRACT PURPOSE: Identify relations of gross motor function and primary motor cortex (M1) functional …