Results 61 to 70 of about 576,943 (354)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen   +47 more
wiley   +1 more source

IN TERMS OF CHILDREN’S EDUCATION “ÇOCUKLARA TALİM” MAGAZINE

open access: yesZeitschrift für die Welt der Türken, 2015
In this study, 9 issue published between December 1887-March 1888 kids magazine “Çocuklara Talim”, scientists deal with social researchs; archives, documents, newspapers, cinema, various visual documents such sequences were analyzed by content analysis ...
Demet Kardaş
doaj  

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

Children's literature teaching methodology [PDF]

open access: yes, 2018
У робочій навчальній програмі подано мету, зміст та завдання вивчення дисципліни "Дитяча література з методикою навчання"В рабочей учебной программе представлены цели, содержание и задачи изучения дисциплины "Детская литература с методикой обучения"In ...
Паламар, Світлана Павлівна
core  

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Variations in the richness of children's interests and experiences in literature. [PDF]

open access: yes, 1952
Thesis (Ed.M.)--Boston ...
Floyd, Bertha R.   +2 more
core   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova   +5 more
wiley   +1 more source

A study of preferences from nineteen selections in current children's literature. [PDF]

open access: yes, 1953
Thesis (Ed.M.)--Boston ...
Bowen, M. Eleanor   +3 more
core   +1 more source

High‐Efficacy Treatment in Neuromyelitis Optica Specturm Disorder Patients With Seropositive AQP4 Antibodies—A Real‐World Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness of high‐efficacy treatments (HET) and low‐efficacy treatments (LET) in NMOSD patients with anti‐aquaporin‐4 antibodies (AQP4‐ab). Methods In this multi‐center study, we analyzed 183 AQP4‐ab seropositive NMOSD patients who received immunosuppressive treatments (IST).
Xiang Li   +10 more
wiley   +1 more source

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