Results 111 to 120 of about 49,184 (309)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Legal assessment of ingrown horns and other horn-related anomalies in cattle and sheep
Animal WelfareCattle and sheep horns have the potential to grow in such a way that the horn bends toward the animal’s head and, if left untreated, may penetrate the skin, causing pressure, pain, and suffering.
Johanna Andersson +2 more
doaj +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
SensorsThe use of advanced brittle composites in engineering systems has necessitated robotic rotary ultrasonic machining to attain high precision with minimal machining defects such as delamination, burrs, and cracks.
Khurram Hameed Mughal +4 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.To address the limitations of existing models, this study innovatively established a mouse model of endometriosis (EMs) capable of mimicking cyclic bleeding. Our results confirmed that this model recapitulates the complete pathological progression from ectopic lesion establishment to systemic responses, exhibiting superior clinical relevance compared ...
Yu Zhuang +7 more
wiley +1 more source
Development of immunocompetent models for primary and metastatic ER+ breast cancer
Animal Models and Experimental Medicine, EarlyView.This study explores syngeneic, immunocompetent models of ER+ breast cancer in 129S6/SvEv mice, using trackable tumor cells to model both primary tumors and metastasis. The models show promise, while also revealing limitations for studying advanced disease and immune interactions.
Devon M. Bull +5 more
wiley +1 more source
A New TeV Source in the Vicinity of Cygnus OB2
, 2002 Gavin Rowell and Dieter Horns (for the HEGRA Collaboration)http://icrhp9.icrr.u-tokyo.ac.jp/abstract ...
Rowell, G. +3 more
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