Results 71 to 80 of about 92,049 (245)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Censorship in Ukrainian Children’s Literature in Totalitarian and Post-Totalitarian Society

Knygotyra
This article contains an overview of the censorship of Ukrainian children’s literature of the 20th – 21st centuries, which is largely related to socio-political processes and the dominant ideology.
Tetiana Kachak, Tetyana Blyznyuk, Roman Golod   +2 more
doaj   +1 more source

Ett stort varuhus i en stor stad: Dagdrömmar och konsumtionskritik i barnlitteraturen

Barnboken: Tidskrift för Barnlitteraturforskning, 2019
Title: A Big Department Store in a Big City. Daydreams and Consumer Criticism in Children’s Literature In advertising, marketing, and product catalogs from the first decades of the 20th century, the newly launched department stores often describe their ...
Elina Druker
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Barnlitteraturforskningens arkeologi

Barnboken: Tidskrift för Barnlitteraturforskning, 2011
Criticism of children’s literature is not, although it too often may seem so, a phenomenon of the later half of the 20th century. The contradiction between didactics and aesthetics, for many established as an axiom in modern children’s literature ...
Westin, Boel
doaj  

Research of Children’s Literature in Ukrainian Scientific Discourse

Magistra Iadertina
Contemporary studies of children’s literature are multidimensional and multidisciplinary. They cover texts and contexts, focus on both individual works or a writer’s body of work and on theoretical generalizations of literary and cultural phenomena, as ...
Tetiana Kachak, Tetyana Blyznyuk
doaj   +1 more source

Nganasan Children Literature: History and Specifics

Journal of Siberian Federal University. Humanities & Social Sciences, 2016
В статье представлены результаты исследования нганасанских детских сказок. Раскрыта история происхождения нганасанских детских сказок от мифологических эпических сказаний народа (ситабов) и из исторических национальных преданий (дюрымы). Апробирована возможность приложения морфологического и семантического анализа для понимания нганасанских сказок, в ...
openaire   +3 more sources

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Modifikasi Atau Modernisasi (?): Permainan Anak di Sekolah Kartini Semarang

Scholaria: Jurnal Pendidikan dan Kebudayaan, 2021
This paper examines the children's playings at Kartini School Semarang. By Combining the annual reports, memorial albums, colonial magazines and newspapers, archives, literature, ego documents, then approached with history of mentality perspectives, we ...
Galuh Ambar Sasi, Emy Wuryani, - Sunardi
doaj