Results 231 to 240 of about 200,923 (352)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Speciation, Structural Refinement, and Distribution of Ti Sites in Titanium Silicalite‐1 From 47/49Ti NMR Crystallography at 28.2 Tesla

open access: yesAngewandte Chemie, EarlyView.
Titanium silicalite‐1 (TS‐1), used in industrial selective oxidation processes, depends on specific, yet still unresolved Ti sites, dispersed within the framework of an MFI‐zeolite. Applying high field (28.2 T) 47/49Ti NMR and 17O NMR spectroscopy for an array of TS‐1 catalysts enables the development of an NMR crystallography protocol and the ...
Christoph J. Kaul   +14 more
wiley   +2 more sources

Evaluation of groundwater resources in Wadi Qena, Egypt: a geophysical and hydrogeochemical perspective. [PDF]

open access: yesSci Rep
Khalifa M   +6 more
europepmc   +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

Catalysis AI Agent Guides Discovering the Universal Design Principle of Cu‐Based Single‐Atom Alloy Catalysts for CO2 Electroreduction

open access: yesAngewandte Chemie, EarlyView.
Artificial intelligence (AI) enables the systematic analysis and comparative evaluation of experimental and theoretical data, optimizes the catalytic reaction research workflow, and accelerates the discovery of high‐performance electrocatalysts. ABSTRACT Copper (Cu)‐based single‐atom alloys (SAAs) represent a promising strategy for optimizing the ...
Xuning Wang   +5 more
wiley   +2 more sources

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