Results 251 to 260 of about 180,551 (346)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone   +11 more
wiley   +1 more source

Ab initio simulation of spin-charge qubits based on bilayer graphene-WSe<sub>2</sub> quantum dots. [PDF]

open access: yesNPJ 2D Mater Appl
Ge H   +7 more
europepmc   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales   +6 more
wiley   +1 more source

Optimum detection for extracting maximum information from symmetric qubit sets [PDF]

open access: green, 2001
Jun Mizuno   +5 more
openalex   +1 more source

Statistical Link Between Bell Nonlocality and Uncertainty Relations in Quantum Mechanics

open access: yesAnnalen der Physik, EarlyView.
Bell nonlocality and uncertainty principle are two distinguished features in quantum mechanics from classical physics. In this work, it is showed the interplay between these two quantum properties. The upper bound of nonlocal correlation strength is determined by accumulation of all local measurement uncertainty, which means that more Bell nonlocality ...
Li‐Yi Hsu
wiley   +1 more source

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