Results 171 to 180 of about 672,718 (300)

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam   +5 more
wiley   +1 more source

Migrasomes, Matrix‐Bound Nanovesicles, and More: Messengers in the Matrix

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) and particles (EPs) are diverse micro‐ and nanoparticles that circulate in bodily fluids and can attach to, or be deposited onto, the extracellular matrix (ECM) and other surfaces. To date, the nomenclature and classification of matrix‐bound or matrix‐associated EVs and EPs (MEVPs) have been unclear, largely due to
Anna V. Kolesov   +3 more
wiley   +1 more source

Current Insight into Human Ornithine Aminotransferase: A Review

open access: yesProteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani   +2 more
wiley   +1 more source

Semi-automated genomic newborn screening highlights complexities in reporting. [PDF]

open access: yesNPJ Genom Med
Chowdhury A   +23 more
europepmc   +1 more source

Thin Fluoride Insulators for Improved 2D Transistors: From Deposition Methods to Recent Applications

open access: yesphysica status solidi (RRL) – Rapid Research Letters, EarlyView.
2D materials hold significant promise for next‐generation electronic and optoelectronic devices, but suitable gate dielectrics are still a challenge. Fluoride insulators, offering inert, dangling‐bond‐free surfaces, have recently emerged as strong candidates. This review covers recent publications on high‐quality fluoride thin‐film deposition and their
Behzad Dadashnia   +3 more
wiley   +1 more source

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort. [PDF]

open access: yesHum Genomics
Fu F   +14 more
europepmc   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema   +5 more
wiley   +1 more source

Tailoring the Melting and Glass Transition Behavior of Zeolitic Imidazolate Frameworks via Ammonium Halide Salts

open access: yesSmall, EarlyView.
Ammonium halide salts serve as inorganic modifiers that lower the melting and glass transition temperatures of zeolitic imidazolate frameworks, enabling centimeter‐scale hybrid glasses and melt processing of otherwise unmeltable ZIF‐8. In situ imaging and pair distribution function analysis reveal salt infiltration, Zn─N bond disruption, and Zn–halide ...
Fengming Cao   +7 more
wiley   +1 more source

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