Results 151 to 160 of about 573,488 (281)

Hip dysplasia in newborns

open access: yesTidsskrift for Den norske legeforening
Claus Klingenberg   +2 more
openaire   +2 more sources

Arthroscopic Capsular Plication and Labral Seal Restoration in Borderline Hip Dysplasia: 2-Year Clinical Outcomes in 55 Cases.

open access: yesArthroscopy: The Journal of Arthroscopy And Related, 2017
Sivashankar Chandrasekaran   +5 more
semanticscholar   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
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

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

open access: yesJournal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
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

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series

open access: yesClinical Case Reports, Volume 14, Issue 8, August 2026.
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

open access: yesMedComm, Volume 7, Issue 8, August 2026.
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

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