Results 61 to 70 of about 848 (174)

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Ethnocultural Situation in the Republic of Karelia (1980-1990s)

, 2005
The Republic of Karelia is an independent state of the Russian Federation. The Karels, the Veps and the Russians are native people of the Republic of Karelia.
Anna Pekina, Pekina, Anna
core   +1 more source

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

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

Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Integrated phenotypic, genomic and computational analyses identified a novel homozygous IFT122 variant causing cranioectodermal dysplasia 1. Structural modeling predicts destabilization of IFT122 protein and altered interactions within the IFT‐A complex, supporting its pathogenicity.
Deema Aljeaid, Abdulrahman Almadiny, Khalidah K. Nasser, Mahmoud Almutadares, Noha M. Issa   +4 more
wiley   +1 more source

The process of revitalization of culture and indigenous ethnic identity. The case of the Vepsian people in Karelia [PDF]

, 2007
This thesis is mainly focused on theoretical study of ethnicity and indigenousness, with some particular attention to language and politics. Some aspects of identity building and self-awareness among the Veps people living in Karelia are in focus.
Romanova, Evgenia
core  

Northern Russian Etymologies: порочка, пёрыш, пёрко

Известия Уральского федерального университета. Серия 2: Гуманитарные науки, 2019
This article puts forward etymological interpretations of several Northern Russian lexemes: порочка ‘a vessel in the form of a birch bark cylinder with a wooden bottom and a cover for the storage and transportation of milk, cottage cheese, flour, etc.’, ‘
Olga Valeryevna Mishchenko
doaj   +1 more source

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

Does error-free use of French negation constitute evidence for Very Early Parameter Setting?

, 2002
Many recent generativist models attribute grammatical knowledge to young children on the basis that children's language patterns the same way as the target adult language.
KATE L. JOSEPH, JULIAN M. PINE
core   +1 more source

Changes in Intrinsic Activity of the Primary Somatosensory Cortex Causally Explain Differences in Emotion Perception in Autism

Autism Research, Volume 19, Issue 4, April 2026.
ABSTRACT Autism Spectrum Disorder (ASD) is characterized by certain difficulties in emotion‐related processing. Recent research using electroencephalography (EEG) to measure somatosensory evoked potentials during emotion perception has shown reduced embodiment of emotional expressions in autistic compared to neurotypical individuals, independently from
Martina Fanghella, Danai Dima, Dimitrios Pinotsis, Sebastian B. Gaigg, Beatriz Calvo‐Merino, Bettina Forster   +5 more
wiley   +1 more source