Results 111 to 120 of about 75,087 (307)

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

The Function of Horn Ridges for Impact Damping

open access: yesBiomimetics
This study explores the damping effects of ram horn ridges on mechanical impacts resulting from ramming. We measured the amplitudes and frequencies of ridges along the axial (pitch) direction of the ridges of ram horns obtained from eight specimens ...
Nayeon Lee   +3 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican 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

Gigantic cutaneous horn: A case report and review of literature

open access: yesAcademic Medicine & Surgery
: Cutaneous horns are rare, keratinized protrusions that resemble animal horns. The prevalence and incidence of cutaneous horns are not well-documented, but they are more commonly found in individuals aged 60 to 80, particularly in sun-exposed areas ...
Noora Al-Sulaiti   +4 more
doaj   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

open access: yesAnnals of Neurology, EarlyView.
Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani   +12 more
wiley   +1 more source

CNC–PNIPAM Drug Delivery System Improves Endometrial Receptivity via Natural Killer Cell Immune Tolerance in Endometriosis

open access: yesAdvanced NanoBiomed Research, EarlyView.
An injectable CNC–PNIPAM hydrogel is developed for intrauterine co‐delivery of levonorgestrel and botropase. This platform reprograms uterine natural killer cells toward an immune–tolerant phenotype and enhances endometrial receptivity marker expression. The results demonstrate a promising strategy to counteract endometriosis–associated infertility and
Zhou Liang   +9 more
wiley   +1 more source

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