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 +8 more
wiley +1 more source
Cyrillic in the Geolinguistic Space. [PDF]
Her Russ Acad Sci, 2022 Aref'ev AL.
europepmc +1 more source
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 +13 more
wiley +1 more source
Genetic Polymorphisms of Cytochromes P450 in Finno-Permic Populations of Russia. [PDF]
Genes (Basel), 2022 Dzhaubermezov M +8 more
europepmc +1 more source
Eager, Pragmatic or Reluctant: Can Common Finno-Ugric Ethnic and Linguistic Links Substantiate Intra-EU CFSP Co-operation? [PDF]
The paper discusses the salience of the Finno-Ugric links in substantiating intra-EU cooperation among Finland, Estonia and Hungary. The focus is on investigating evidence of such cooperation in the EU's human rights and minority rights related policies ...
Umut Korkut
core
Discussion regarding the south-east origin of the Sámi [PDF]
, 2021 The area of the Sámi has shrunk as time has passed. The question of their origin is topical especially in areas where there is no longer any Sámi population today. Their ancient area can be outlined by toponymical data.
Kosmenko, Mark
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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 +32 more
wiley +1 more source
Relationship of the gene pool of the Khants with the peoples of Western Siberia, Cis-Urals and the Altai-Sayan Region according to the data on the polymorphism of autosomic locus and the Y-chromosome. [PDF]
Vavilovskii Zhurnal Genet Selektsii, 2023 Kharkov VN +7 more
europepmc +1 more source
Linguistes, activistes et locuteurs : trois terrains croisés (vepse, tabarquin, croate molisain) [PDF]
, 2019 Trois expériences récentes de terrain réalisées dans un contexte minoritaire européen sont présentées ici, qui illustrent les différentes facettes d’un aménagement linguistique conduit essentiellement par la société civile : les terrains vepse, tabarquin
Léonard, Ksenija Djordjević
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FUTURUM-EXACTUM: A VERB FORM OF WRITTEN VEPSIAN THAT IS NOT TAKEN INTO ACCOUNT IN ITS DESCRIPTIONS
Yearbook of Finno-Ugric Studies, 2021 The article discusses the use of an analytical verb form of the linneb tehtud type in written Vepsian, that consists the 3 person singular form of the verb linneb ‘will’ and the passive past participle on -tud/-dud (in most cases) and is a calque from a similar Russian construction будет сделан (-a, -o).
openaire +2 more sources