Results 221 to 230 of about 406,691 (285)
Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study. [PDF]
Nguyen D, Ireland P, Pacey V.
europepmc +1 more source
Objectives Ultrasonography is increasingly the preferred method for infant hip screening to enable timely diagnosis and treatment of developmental dysplasia of the hip (DDH). However, its reliance on experienced specialists and bulky equipment limits its application in routine screening, particularly in resource‐limited and remote settings. We aimed to
Dandan Zhang +9 more
wiley +1 more source
A Family of <i>LBR</i> Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly. [PDF]
Dirimtekin E +4 more
europepmc +1 more source
Glutamine Metabolism in Health and Diseases
Glutamine metabolism acts as a metabolic hub connecting cellular stress adaptation, immune regulation, and disease development. Through regulating energy production, biosynthesis, redox balance, and nitrogen metabolism, glutamine supports cellular homeostasis under physiological and pathological conditions.
Yi Ding +3 more
wiley +1 more source
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection. [PDF]
Cui LM +12 more
europepmc +1 more source
Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu +5 more
wiley +1 more source
Correction to “Pathways to enhancing prenatal diagnosis of skeletal dysplasias”
Pregnancy, Volume 2, Issue 6, November 2026.
wiley +1 more source
ABSTRACT The extracellular matrix (ECM) is a dynamic and information‐rich network that integrates structural support with biochemical and mechanical signaling. Among its key regulatory components are the Small Leucine‐Rich Proteoglycans (SLRPs), a family of matrix molecules that coordinate extracellular architecture with cell signaling.
Alessandra Leone +2 more
wiley +1 more source
Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study. [PDF]
Fagereng E +10 more
europepmc +1 more source
Hand Radiographs in Skeletal Dysplasia: A Pictorial Review. [PDF]
S DD +5 more
europepmc +1 more source

