Results 171 to 180 of about 3,087 (254)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican 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

Enzymatic Encoding of Topology in an Intrinsically Disordered Single‐Chain Protein

open access: yesAngewandte Chemie, EarlyView.
Enzymatic intramolecular cross‐linking enables topology control in intrinsically disordered proteins, yielding SCNPs with reproducible cavity architectures. Using β‐casein and microbial transglutaminase, sparse, sequence‐resolved constraints drive compact collapse without inducing secondary structure.
Joshua Johani   +9 more
wiley   +2 more sources

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

3‐Deoxy‐3‐Fluoro Mannuronic Acid Alginates: Stereoselective Automated Synthesis and Conformational Behaviour

open access: yesAngewandte Chemie, EarlyView.
The impact of C‐3 fluorination on the synthesis and conformation of alginate oligosaccharides is investigated. A C‐3‐fluoro mannuronic acid building block is generated and shown to react with high β‐selectivity. Automated glycan assembly enables access to uniquely fluorinated mannuronic acid alginates where deoxyfluorination is shown not to perturb the
Sean T. Evans   +10 more
wiley   +2 more sources

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster   +4 more
wiley   +1 more source

Design Guidelines for Anode Modifications to Eliminate Soft Short Circuits in Anode‐Free Na Batteries Under High Current Density With Large‐Capacity Plating, Demonstrated via Initiated Chemical Vapor Deposition (iCVD)

open access: yesAngewandte Chemie, EarlyView.
This work establishes a laterally homogeneous organic–inorganic hybrid interphase for soft‐short‐free anode‐free sodium metal batteries under extended cycling at high current density and high plating capacity. In contrast to conventional strategies that evolve into laterally heterogeneous interphases and induce localized Na filament growth, the pDFHA ...
Yeongjun Oh   +7 more
wiley   +2 more sources

Exploring complex phenomena in fluid flow and plasma physics via the Schrödinger-type Maccari system. [PDF]

open access: yesSci Rep
Abbas N   +6 more
europepmc   +1 more source

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