Results 111 to 120 of about 238,754 (297)

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

QUESTIONS ABOUT THE ACTIVITIES OF LIBRARY ASSOCIATIONS AT THE FIRST NATIONAL CONGRESS OF LIBRARY WORKERS (1926): DECISION AND IMPLEMENTATION DIFFICULTIES (THE 90TH ANNIVERSARY OF CONGRESS)

open access: yesVìsnik Odesʹkogo Nacìonalʹnogo Unìversitetu: Bìblìotekoznavstvo, Bìblìografoznavstvo, Knigoznavstvo, 2017
The purpose of the article is to study the historical background, socio-political and cultural factors of the establishment and operation of library associations; study the meaning and essence of the presentations and discussions, the issue of ...
В. Ю. Соколов
doaj  

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

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

Final report of the Task Force on Law Library Associations

open access: yes, 2007
Title from PDF caption, p. [3] (viewed on May 21, 2007).; "March 26, 2007"--P. [1]
Ohio. General Assembly. Task Force on Law Library Associations.   +1 more
core  

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

Current Status of Pakistan Library Association

open access: yesJournal of Information Management and Practices
Oldest and most well-known professional association of librarians and information professionals in Pakistan is the Pakistan Library Association (PLA) founded in 1957 and registered under the Societies Registration Act of 1860.
Nasir Mahmood, Perviaz Ahmad
doaj  

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