Results 91 to 100 of about 4,800 (298)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Book Review: Educating the Disabled: Enabling Learners in Inclusive Settings
Author: George R. Taylor & Frances T. Harrington Reviewer: Judy Riffle Publisher: Scarecrow Press, Inc., 2003 Cloth, ISBN: 0-8108-4614-4 Paper, ISBN: 0-8108-4616-0 How to Obtain: www.amazon.com or www.scarecroweducation.com (15% discount) Cost ...
Riffle, Judy
core
Analysis for Underwater Sound on Natural River Habitat
A riffle-pool structure is a representative physical structure of bed in rivers. The change in the physical parameter of the habitat could lead to changes in the sound environment of rivers, which are expressed by underwater acoustics.
Gu Jung-Eun +3 more
doaj +1 more source
Generalized Riffle Shuffles and Quasisymmetric Functions
19 pages: minor corrections and the omission of some material that has appeared in more general form ...
openaire +3 more sources
A rule of thumb for riffle shuffling
27 pages, 5 ...
Assaf, Sami +2 more
openaire +4 more sources
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
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
Hydraulic and morpho-sedimentary differences between pools and riffles have always intrigued fluvial geomorphologists. Surprisingly, earlier explanations of pool-riffle morpho-sedimentology dynamic focus too exclusively on hydraulic patterns and neglect ...
Latulippe, Christian.
core
The Hydrodynamics of Pool-Riffle Sequences with Changing Bedform Length [PDF]
Previous research has demonstrated that pool-riffle bedforms play a critical role in channel stability and ecosystem health in many natural gravel-bed channels.
Obach, Lana M.
core
The Diversity of Pool Riffle Morphologies
Bruce MacVicar, Doug Thompson
openaire +2 more sources
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source

