Results 121 to 130 of about 21,503,426 (309)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

Library Line, December, 1970

open access: yes, 2018
The County Line was a public, informational publication of the Toledo Lucas County Public Library. The first issue came out in March 1970, and it continued until December 1992.
Toledo Lucas County Public Library
core  

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

Library Line, November, 1973

open access: yes, 2018
The County Line was a public, informational publication of the Toledo Lucas County Public Library. The first issue came out in March 1970, and it continued until December 1992.
Toledo Lucas County Public Library
core  

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee   +7 more
wiley   +1 more source

ČOPOVA DIPLOMA IN PRIZNANJA 2014

open access: yesKnjižnica, 2014
ZVEZA BIBLIOTEKARSKIH DRUŠTEV SLOVENIJE SLOVENIAN LIBRARY ASSOCIATION
doaj   +1 more source

Library Line, Spring /Summer 2004

open access: yes, 2018
The Library Line was a publication of the Toledo Lucas County Public Library that ran from 1993 through 2010. It covered library news, events, readers' advisory, and listed donors.
Toledo Lucas County Public Library
core  

Library: : * - a Toolkit For Digital Libraries.

open access: yes, 2002
In last years the amount of digital documents has increased dramatically. Unfortunately the same did not occur with the structure and organization of the information. Traditionally we built a digital library using a catalog with documents' meta-information including a conceptual classification and an ontology of concepts.
Simões, Alberto, Almeida, J. J.
openaire   +2 more sources

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai   +5 more
wiley   +1 more source

Predsedstvo in drugi organi ZBDS v mandatnem obdobju 2009 - 2011

open access: yesKnjižnica, 2010
Zveza bibliotekarskih društev ZBDS / Slovenian Library Association
doaj   +1 more source

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