Results 51 to 60 of about 420 (111)

Preface [PDF]

, 2015
Prefac
Arukask, Madis, Saar, Eva
core   +2 more sources

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Itämerensuomalaisten kielten keskinäistä ymmärrettävyyttä mittaavan kokeen suunnittelu, toteutus ja uutuusarvot

Lähivõrdlusi
Itämerensuomalaisten kielten keskinäisen ymmärrettävyyden tutkimus on osoittanut, että kielten äidinkieliset puhujat luottavat itämerensuomalaisten kielten samankaltaisuuteen pyrkiessään ymmärtämään sukukieltä.
Aleksi Palokangas
doaj   +1 more source

Decoloniality and Russian Music: Finno-Ugric Legacies in Contemporary St. Petersburg [PDF]

, 2023
This article presents two case studies examining the musical groups Talomerkit and Ingervala in the context of the late Soviet and post-Soviet reawakening of Finno-Ugric culture in St. Petersburg, Russia.
Shatilova, Anya
core   +2 more sources

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Impact of the Ussr State Policy on the Vepsians’ Assimilation in the 20th Century [PDF]

, 2015
The article describes the impact of the USSR state policy on the socio-cultural development of the Vepsian ethnic group in the 1920-80s. The Vepsians are considered as one of the Finno-Ugric nations affected by different aspects of the USSR national ...
Bashkarev, A.A., Maklakova, N.V.
core   +4 more sources

MAVISp: A modular structure‐based framework for protein variant effects

Protein Science, Volume 35, Issue 5, May 2026.
Abstract The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and ...
Matteo Arnaudi, Mattia Utichi, Kristine Degn, Matteo Tiberti, Ludovica Beltrame, Karolina Krzesińska, Pablo Sánchez‐Izquierdo Besora, Eleni Kiachaki, Simone Scrima, Laura Bauer, Katrine Meldgård, Anna Melidi, Lorenzo Favaro, Anu Oswal, Guglielmo Tedeschi, Terézia Dorčaková, Alberte Heering Estad, Joachim Breitenstein, Jordan Safer, Paraskevi Saridaki, Valentina Sora, Francesca Maselli, Philipp Becker, Jérémy Vinhas, Alberto Pettenella, Matteo Lambrughi, Claudia Cava, Anna Rohlin, Mef Nilbert, Sumaiya Iqbal, Peter Wad Sackett, Burcu Aykac Fas, Elena Papaleo   +32 more
wiley   +1 more source

Lexical Representations of “Christian” and “Human” in the Vepsian and Karelian Languages

Финно-угорский мир
Introduction. The relevance of this research stems from the need to examine the underlying processes of transformation in the cultural identity of the Vepsians and Karelians under the influence of centuries of Christianization, as reflected in their ...
Daniil Yu. Balandin, Tatyana V. Pashkova
doaj   +1 more source

Endangered Languages And The Use Of Sound Archives And Fieldwork Data For Their Documentation And Revitalisation: Voices From Tundra And Taiga [PDF]

, 2010
The research program Voices from Tundra and Taiga has been devoted to the study of endangered languages and cultures of the Russian Federation, which must be described rapidly before they become extinct. This research is in the fortunate position that
de Graaf, Tjeerd
core  

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source