Results 51 to 60 of about 3,568,508 (117)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

K 90-летию прибалтийско-финской лингвистической школы Kарелии [Finnic linguistics in Karelia]; pp. 151-158 [PDF]

Linguistica Uralica, 2020
Ekaterina Zakharova, Irina Novak
doaj   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, Volume 67, Issue 10, Page 5448-5463, October 2026.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source

VEPs for RG, BW, and face stimuli in ASD and TD adults.

, 2017
VEPs for RG, BW, and face stimuli in ASD and TD adults.
Shozo Tobimatsu (3109665), Naomi Takamiya (3712123), Yuka Miyanaga (3712117), Kenji Takahashi (2425006), Takao Yamasaki (3712120), Katsuya Ogata (711585), Toshihiko Maekawa (3712114)   +6 more
core   +1 more source

EEF1D‐Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We identified a novel homozygous variant (c.1489‐26_1493del) in EEF1D in an Iranian sibling with global developmental delay, intellectual disability, microcephaly, and failure to thrive. This likely pathogenic variant, absent in gnomAD v4, further supports EEF1D as a causative gene for autosomal recessive neurodevelopmental disorders, reinforcing ...
Maedeh Ganji, Arastoo Kaki, Mohammad Farid Mohammadi, Javad Behroozi, Seyed Mohammad Kahani, Behzad Rezaei, Afshin Fayazi, Pouria Mohammadi, Ali H. Bereshneh, Masoud Garshasbi   +9 more
wiley   +1 more source

BILINGUAL TEXT′S FEATURES IN THE HISTORY OF KARELIAN LITERATURE

Transactions of the Karelian Research Centre of the Russian Academy of Sciences, 2015
This article analyses typical themes and features of bilingual lyric poetry of national Karelian poets O.Mishin – A.Hiiri (ethnic Ingrian Finn, who makes verses in the Finnish and Russian languages), A.Volkov (ethnic Karelian, who makes verses in the ...
Maria Kazakova
doaj   +1 more source

Illegally denied: manipulations related to the registration of the Veps identity in the late Soviet Union

, 2017
This article raises questions about the relationship between theory and practice, legality and illegality in the late Soviet nationalities policy, and the role played by various branches of power.
Indrek Jääts
core   +1 more source

Next‐Generation Brain Health Monitoring Enabled by Integrated Wearable AI Infrastructure

Smart Medicine, Volume 5, Issue 5, October 2026.
This review presents an integrated framework for next‐generation brain‐health monitoring that connects molecular pathology to digital biomarkers via multimodal wearable sensing, signal processing, and AI‐driven analytics. It highlights advances in sensor design, data quality, edge computing, artificial intelligence, digital twins, and clinical ...
Muhammad Hasan Masrur, Bangul Khan, Rana Talha Khalid, Sumaira, Saad Abdullah   +4 more
wiley   +1 more source

Field Research of Karelian Toponymy [PDF]

Вопросы ономастики, 2012
The article reviews toponymy field research carried out by the Institute of Language, Literature and History of the Karelian Research Centre of the Russian Academy of Sciences during the past 40 years and aiming to create and enlarge the card index of ...
Irma I. Mullonen
doaj  

Presurgical magnetoencephalography‐derived network control metrics distinguish successful hippocampal resection vs sparing in temporal lobe epilepsy

Epilepsia, Volume 67, Issue 9, Page 4731-4744, September 2026.
Abstract Objective Surgical decision‐making in temporal lobe epilepsy (TLE) faces a critical challenge in determining whether the hippocampus can be safely spared during anterior temporal resection, particularly when surgery involves the language‐dominant hemisphere.
Guhan Seshadri NP, Himanshu Kumar, Neha Sara John, Andreas V. Alexopoulos, Richard C. Burgess, Hiroatsu Murakami, Balu Krishnan   +6 more
wiley   +1 more source