Results 111 to 120 of about 680,654 (265)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

The influence of aerodynamic effects on the supporting structure of high-rise buildings depending on their cross-sectional shape

open access: yesBudownictwo o Zoptymalizowanym Potencjale Energetycznym
The influence of aerodynamic influences on the load-bearing structure of RC elements: columns, slabs and beams in high-rise buildings, is an important issue during the design of modern buildings, especially in the context of rapid urban development ...
Roman Gąćkowski, Yvan Verbakel
doaj   +1 more source

Development of national standards related to the integrated safety and security of high-rise buildings

open access: yesE3S Web of Conferences, 2018
The article considers the issues of developing national standards for high-rise construction. The system of standards should provide industrial, operational, economic and terrorist safety of high-rise buildings and facilities.
Voskresenskaya Elena   +1 more
doaj   +1 more source

Initial comparisons of modular-sized, integrated utility systems and conventional systems for several building types [PDF]

open access: yes
The results of a study of the application of a modular integrated utility system to six typical building types are compared with the application of a conventional utility system to the same facilities.
Benson, H. E., Monford, L. G., Jr.
core   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Neglected Aspects of SARS-CoV-2 Aerosol Transmission in Bathrooms of Multistory and High-Rise Buildings - Beijing Municipality, China, October 2022. [PDF]

open access: yesChina CDC Wkly, 2023
Lyu K   +12 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

Fire safety issues in the design and construction of high-rise buildings

open access: yesMATEC Web of Conferences, 2018
The construction of high-rise buildings has revealed new problems related to fire safety. The peculiarity of the architecture, which is covered in high-rise, in fires creates a danger for a large number of people there, reduces the possibility of their ...
Poliakova Tatiana, Grigoryan Marina
doaj   +1 more source

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