Results 61 to 70 of about 112,249 (274)
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Ciência e Agrotecnologia, 2007 Objetivou-se com este trabalho avaliar o efeito da restrição alimentar nas características de carcaça de cabritos F1 Boer x Saanen. Foram utilizados 21 cabritos, pesando 15 kg de PV, distribuídos em três tratamentos (0, 30 e 60% de restrição).
José Morais Pereira Filho +5 more
doaj +1 more source
Cells, 2023 The induced membrane technique is an innovative approach for repairing critical bone defects and has been applied recently in patients with congenital pseudarthrosis of the tibia (CPT).
Céline Klein +4 more
doaj +1 more source
In Situ Simultaneous Measuring Forces Acted on Individual Legs of Water Striders According to Archimedes' Principle [PDF]
Applied Physics Letters 2016, 109 (16), 163701, 2016 The supporting forces of all the legs have been simultaneously measured through a natural phenomenon inspired shadow method, by capturing water strider leg shadows to calculate the expelled water volume and the equivalent floating forces according to Archimedes' principle, with a sensitivity up to nN~pN/pixel.
arxiv +1 more source
Diabetologia, 1982 Many clinical problems arise as a result of tissue pathology in the diabetic leg. Neuropathic or vascular ischaemic syndromes are readily identified but on occasions differentiation of the two may be difficult. This survey reviews the aetiological background of neuropathy and ischaemia, examines the relationship of physiological blood flow ...
openaire +3 more sources
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
At udforske leg i skolen i et økologisk perspektiv
Barn, 2022 Med afsæt i et design-based research projekt og længerevarende observationer af børns leg i skolen udvikler denne artikel begrebet om legeorden og et økologisk forståelsesperspektiv, der ser samspil, sammenhæng og helhedsorientering som centrale værdier
Helle Marie Skovbjerg +2 more
doaj +1 more source
Low-Energy Properties of Antiferromagnetic Spin-1/2 Heisenberg Ladders with an Odd Number of Legs [PDF]
, 1996 An effective low-energy description for multi-leg spin-1/2 Heisenberg ladders with an odd number of legs is proposed. Using a newly developed Monte Carlo loop algorithm and exact diagonalization techniques, the uniform and staggered magnetic susceptibility and the entropy are calculated for ladders with 1, 3, and 5 legs.
arxiv +1 more source
Efficient Path Planning and Tracking for Multi-Modal Legged-Aerial Locomotion Using Integrated Probabilistic Road Maps (PRM) and Reference Governors (RG) [PDF]
arXiv, 2022 There have been several successful implementations of bio-inspired legged robots that can trot, walk, and hop robustly even in the presence of significant unplanned disturbances. Despite all of these accomplishments, practical control and high-level decision-making algorithms in multi-modal legged systems are overlooked.
arxiv
Straight-Leg Walking Through Underconstrained Whole-Body Control [PDF]
2018 IEEE International Conference on Robotics and Automation, 2017 We present an approach for achieving a natural, efficient gait on bipedal robots using straightened legs and toe-off. Our algorithm avoids complex height planning by allowing a whole-body controller to determine the straightest possible leg configuration at run-time. The controller solutions are biased towards a straight leg configuration by projecting
arxiv +1 more source