Results 151 to 160 of about 573,488 (281)
Single-Stage Bilateral Hip Reconstruction for Kabuki Hip Dysplasia in a Four-Year-Old: A Case Report. [PDF]
Shajahan A, Almuqeem MH, Qureshi A.
europepmc +1 more source
Sivashankar Chandrasekaran +5 more
semanticscholar +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
Ultrasonographic Evaluation of Canine Hip Dysplasia: Comparison with FCI Radiographic Scoring System. [PDF]
Tomé I +3 more
europepmc +1 more source
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli +7 more
wiley +1 more source
ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Alaa Bella +11 more
wiley +1 more source
Lymphatic Endothelial Cells in Health and Disease
Lymphatic endothelial cells (LECs) are dynamic regulators of tissue homeostasis and disease remodeling. In the healthy state, LECs coordinate interstitial fluid drainage, intestinal lipid transport, and immune trafficking and tolerance. Across disease settings, however, these same programs become maladaptively reprogrammed, contributing to barrier ...
Du Tang +5 more
wiley +1 more source
Automated Analysis of Pelvic Radiographs for Hip Dysplasia Screening Using Artificial Intelligence in Children with Cerebral Palsy: A Systematic Review. [PDF]
Barmare A +3 more
europepmc +1 more source

