Results 191 to 200 of about 244,806 (260)

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral   +52 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos   +46 more
wiley   +1 more source

The Many Faces of Indeterminacy in Interactive Deadbots. [PDF]

open access: yesPhilos Technol
Kozlovski A, Harbinja E, Dobbe R.
europepmc   +1 more source

Embedding Chemistry and Pharmacy Into Sustainability

open access: yesAngewandte Chemie International Edition, EarlyView.
Chemistry and pharmacy provide products and processes that are indispensable for our high living standard. To understand their relationship with sustainability is important to allow them to contribute to sustainability in a sustainable manner. An integrated overview of green, circular, and sustainable chemistry and pharmacy is given and how they have t
Klaus Kümmerer
wiley   +1 more source

A Geomorphometric Approach to Estimate the Deterioration of Earthen Archaeological Sites by Rainfall and Diffusion Processes: The Huaca Chornancap (Eighth–14th Century ad), Lambayeque, Peru

open access: yesArchaeological Prospection, EarlyView.
ABSTRACT Rain‐induced erosion processes can severely damage Earthen archaeological sites. Huaca Chornancap (HCH; eighth–14th century ad) is a platform located in the Lambayeque region (Peru) exposed to seasonal rain due to El Niño Southern Oscillation (ENSO).
Luigi Magnini   +5 more
wiley   +1 more source

Coherence‐Gated Wrapped‐Phase InSAR With Matrix‐Based Uncertainty Diagnostics for Burial‐Mound Hotspot Ranking (Sicily, Italy)

open access: yesArchaeological Prospection, EarlyView.
ABSTRACT Burial mounds are key elements of Mediterranean funerary landscapes, but in intensively cultivated coastal plains their low‐relief expression is easily obscured by ploughing, levelling and rapidly changing surface conditions, making single‐date observations unreliable.
Salvatore Polverino   +2 more
wiley   +1 more source

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