Results 241 to 250 of about 347,797 (306)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Fibrous Histiocytoma in the Far Lateral Frontal Sinus-A Rare Observation. [PDF]

open access: yesDiagnostics (Basel)
Wilhelmer A   +4 more
europepmc   +1 more source

A detailed redescription of a skeletally immature ‘Redondasaurus’ suggests ontogenetic transformations in the taxon mirror phytosaurian morphological evolution

open access: yesThe Anatomical Record, Volume 309, Issue 10, Page 2656-2697, October 2026.
Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley   +1 more source

Endoscopic Sinus Surgery in Frontal Sinus Inverted Papilloma: A Systematic Review. [PDF]

open access: yesJ Pers Med
Fieux M   +7 more
europepmc   +1 more source

Atlas of Brain Glucose Metabolism Using Deuterium Metabolic Imaging at 3 T

open access: yesMagnetic Resonance in Medicine, Volume 96, Issue 4, Page 1834-1845, October 2026.
ABSTRACT Purpose Deuterium metabolic imaging (DMI) offers noninvasive magnetic resonance imaging (MRI)–based assessment of metabolism in vivo, making it a relevant paraclinical tool for diseases with neurological metabolic alterations. This study aimed to establish a normative reference atlas of brain glucose metabolism accounting for age and sex ...
Kamilla K. Trosborg   +14 more
wiley   +1 more source

Simultaneous T2, T2*, and R2′ Mapping for Multiple Sclerosis Using Nonlinear Model‐Based Reconstruction of Undersampled Radial RARE‐EPI MRI

open access: yesMagnetic Resonance in Medicine, Volume 96, Issue 4, Page 1872-1892, October 2026.
ABSTRACT Purpose To demonstrate the synergy of undersampled radial 2in1‐RARE‐EPI acquisition and nonlinear model‐based reconstruction for accelerated and simultaneous T2, T2*, and R2′ mapping in brains of patients with multiple sclerosis (MS). Methods 2in1‐RARE‐EPI combines a RARE module with an EPI module to capture T2 and T2* information.
Jose Raul Velasquez Vides   +16 more
wiley   +1 more source

Myasthenia Gravis and Thymoma

open access: yesMuscle &Nerve, Volume 74, Issue 4, Page 1156-1173, October 2026.
ABSTRACT Thymoma is the most common tumor of the anterior mediastinum. Approximately 20%–30% of patients with a thymoma develop myasthenia gravis (MG), and an additional one third may possess positive acetylcholine receptor (AChR) antibodies without MG.
Benjamin Claytor   +5 more
wiley   +1 more source

Comparison of Frontal Sinus Dimensions with Different Skeletal Classes and Vertical Patterns: A Retrospective Study. [PDF]

open access: yesHealthcare (Basel)
Nota A   +5 more
europepmc   +1 more source

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