Results 91 to 100 of about 4,800 (298)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals 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

Book Review: Educating the Disabled: Enabling Learners in Inclusive Settings

open access: yes, 2005
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

open access: yesE3S Web of Conferences, 2018
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

open access: yesAnnals of Combinatorics, 2001
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

open access: yesThe Annals of Applied Probability, 2011
27 pages, 5 ...
Assaf, Sami   +2 more
openaire   +4 more sources

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

Morpho-sedimentary dynamics of pool-riffle sequences in a gravel-bed river : bedload transport reversal and pool-riffle maintenance

open access: yes, 2006
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]

open access: yes, 2011
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

open access: yesSSRN Electronic Journal, 2022
Bruce MacVicar, Doug Thompson
openaire   +2 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Home - About - Disclaimer - Privacy