Results 151 to 160 of about 233,450 (266)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
[The Spiral Sketch Book brand sketchbook]
Small sketchbook containing pencil sketches by Everett Spruce. ''The Spiral Sketch Book, No. 530R'' is on front of the spiral-bound sketchbook.
Spruce, Everett F. (Everett Franklin), 1908-2002
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The Mediating Role of Spiral of Silence in the Effect of Nomophobia on Social Withdrawal
There is limited research in the literature that examines the relationships between the spiral of silence, nomophobia, and social withdrawal among university students.
Ece Zeybek Yilmaz, Ayhan Bayram
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Dependence of spiral galaxy distribution on viewing angle in RC3
, 2000 The normalized inclination distributions are presented for the spiral galaxies in RC3. The results show that, except for the bin of 81 degrees-90 degrees, in which the apparent minor isophotal diameters that are used to obtain the inclinations are ...
Song, GX, Shu, CG, Ma, J
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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
An Autoethnographic Spiral: Dancing "Showerhead"
This essay performs an autoethnographic spiral around a movement called showerhead—a spiraling motion, beginning with the dancers’ right hands that is a key motive in the duet "Duo" by William Forsythe.
Waterhouse, Elizabeth
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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals 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
Experimental measurement on movement of spiral-type capsule endoscope
, 2016 Wanan Yang,1 Houde Dai,2 Yong He,1 Fengqing Qin1 1School of Computer and Information Engineering, Yibin University, Yibin, Sichuan, People's Republic of China; 2Quanzhou Institute of Equipment Manufacturing, Fujian Institute of Research on the ...
Yang W, He Y, Qin F, Dai H
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