Results 41 to 50 of about 88 (87)

A Finnic holy word and its subsequent history

Scripta Instituti Donneriani Aboensis, 1990
This article concentrates on a specific ancient holy word in Finnish and its subsequent development, hiisi. In the Finnish language region hiisi appears as an element in place names in over 230 villages established by the end of the thirteenth century ...
Mauno Koski
doaj   +1 more source

Adoption of Minimum Tillage and Mid‐Season Drainage in Rice Production and Their Impacts on Farm and Economic Performance

Australian Journal of Agricultural and Resource Economics, EarlyView.
ABSTRACT This paper investigates the effects of two greenhouse gas (GHG) mitigation practices—minimum tillage and mid‐season drainage—on rice farmers' farm performance (e.g., crop yield and risk) and economic outcomes (e.g., income and vulnerability).
Hongyun Zheng, Wanglin Ma
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Veps Wedding Terminology in the Etymological and Linguo-Geographical Aspects (Veps vs. Russian)

Научный диалог, 2019
The relevance and novelty of the study is based on the material of the “Linguistic Atlas of the Vepsian Language” (St. Petersburg, 2019), an etymological and linguo-geographical analysis of terms important from the point of view of spiritual culture that
N. G. Zaitseva, O. Yu. Zhukova
doaj   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Vepsa rahvaluule lummas

Mäetagused, 1997
The author introduces the Vepsian chants, fairy tales, proverbs, performing situation and the best performers, material about which was collected in the past few years.
Kristi Salve
doaj  

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 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