Results 41 to 50 of about 289,746 (311)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals 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
mayconbordin/storm-applications 1.0.0
, 2020 A collection of real-time applications built with Apache ...
Maycon Viana Bordin
core +1 more source
Criteria-based approach to selecting the operating mode of a thermoelectric cooling device
Технологія та конструювання в електронній апаратурі, 2003 An analysis of known operating modes of a cooling thermoelement is presented. The possibilities of a criteria-based approach as a method for finding intermediate (compromise) operating modes in the design of thermoelectric cooling devices (TECDs) are ...
V. P. Zaikov +3 more
doaj
Iris melanoma presenting as childhood glaucoma
American Journal of Ophthalmology Case Reports, 2018 Purpose: To describe the natural history and management of a rare case of iris melanoma in a pediatric patient. Observations: A Caucasian female presented with left pupillary abnormalities at age 7, progressive iris changes at age 9, and markedly ...
Briana C. Gapsis +7 more
doaj +1 more source
Comparative assessment of the indigenous-local models of rural housing against sandstorms: The case study of Tembaka and Dehkol villages in Hamoun County [PDF]
مسکن و محیط روستا, 2022 The air flow in Sistan Region depends on the direction, speed, and continuation of the winds known as the “120-day winds of Sistan”. These winds blow over the settlements of the region every year from the beginning of June to the end of September with ...
Abolfazl Heidari +2 more
doaj
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
, 2022 Added support for model checking LTL properties in the sparse (and dd-to-sparse) engine. Requires building with Spot or an external LTL to deterministic automaton converter (using option --ltl2datool).
P. Berger +25 more
core +1 more source
Application of the approximate direct modeling method in preliminary testing of heat exchangers
Технологія та конструювання в електронній апаратурі, 2003 The proposed method makes it possible to carry out bench tests of heat exchangers using the available coolant in the equipment, which differs from that used in operation.
B. P. Bazelev +3 more
doaj
The Influence of Reef Topography on Storm-Driven Sand Flux
Journal of Marine Science and Engineering, 2021 Natural formations of rock and coral can support geologically controlled beaches, where the beach dynamics are significantly influenced by these structures.
Cyprien Bosserelle +3 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu +2 more
wiley +1 more source