Results 121 to 130 of about 10,092 (250)
Management of a large limbal dermoid with excision and ipsilateral limbal epithelial translocation. [PDF]
Chaurasia S, Ramappa M.
europepmc +1 more source
Abstract Acquiring mathematical competence is essential to independent living. In this study, we investigated the mathematics profile in young people with Down syndrome (DS), and the relations between foundational and more complex mathematics skills.
Su Morris +2 more
wiley +1 more source
Marx's Concept of Justice: Disambiguating Capitalist and Communist Justice
Journal of Social Philosophy, EarlyView.
Gregory Slack
wiley +1 more source
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon +9 more
wiley +1 more source
Cannabinoids rescue migraine symptoms caused by central CGRP administration in mice. [PDF]
Zorrilla E +3 more
europepmc +1 more source
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda +10 more
wiley +1 more source
A 9-Year-Old Boy With Strabismus, Anisometropic Amblyopia, and Myopia in the Left Eye, Associated With Myelinated Retinal Nerve Fibers Syndrome, Managed With Multimodal Therapy. [PDF]
Zhang Y.
europepmc +1 more source
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel +27 more
wiley +1 more source

