Results 171 to 180 of about 569,920 (414)
, 2019 Goldenhar syndrome is also knowns as Oculo-Auriculo-Vertebral Syndrome which is a rare case. It represents hemifacial microsomia, macrostomia and cleft lip and palate (CLP) in facial characteristics. It has a wide range of multiple symptoms in ophthalmic,
김준영 +3 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Social cognition, psychosocial development and well-being in galactosemia
Orphanet Journal of Rare DiseasesBackground Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry +3 more
doaj +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour +5 more
wiley +1 more source
Scientific ReportsGastric feelings are often studied using invasive stimulations changing the stomach state and overlooking how context and personality traits shape these sensations.
Rudy Jeanne +5 more
doaj +1 more source
AB1027 The utility of lip biopsy in patients diagnosed of IPAF (interstitial pneumonia with autoimmune features) [PDF]
, 2017 Hae‐Sim Park +9 more
openalex +1 more source
Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis
Advanced NanoBiomed Research, EarlyView.Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia +10 more
wiley +1 more source
The Anatomical Record, EarlyView.A new musculoskeletal reconstruction and revision of the cranio‐mandibular anatomy of the Devonian arthrodire placoderm Dunkleosteus terrelli from a comparative and functional anatomical perspective. Dunkleosteus is a specialized arthrodire with many specializations for feeding on large vertebrates, and many of its features are part of broader ...
Russell K. Engelman +4 more
wiley +1 more source
Quantifying vacuum-like jets in heavy-ion collisions: a machine learning study
European Physical Journal C: Particles and FieldsThe modification of jets by interaction with the quark gluon plasma has been extensively established through the comparison of observables computed for samples of jets produced in nucleus-nucleus collisions and proton-proton collisions.
Miguel Crispim Romão +2 more
doaj +1 more source