Results 171 to 180 of about 47,155 (269)

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 more
europepmc   +1 more source

Unlocking the genetic control of early seedling resistance to wheat powdery mildew through microphenomics

Pest Management Science, Volume 82, Issue 2, Page 1668-1679, February 2026.
Microphenomics is a new technique for detecting the very early resistance of powdery mildew in wheat seedlings, after 24, 48, and 72 h from infection. A number of 29, 42, and 34 genes models were identified to harbor significant SNP markers associated with the early resistance to WPM.
Amira M.I. Mourad, Hanaa M.S. Ibrahim, Stefanie Lück, Andreas Börner, Dimitar Douchkov   +4 more
wiley   +1 more source

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease. [PDF]

Ital J Pediatr
Zhou L, Yu Z, Yang Y, Han Y, Qiu L, Zhang Y, Yang F, Zhou J.   +7 more
europepmc   +1 more source

A Simple, Ultrastable, and Cost‐Effective Oxygen‐Scavenging System for Long‐Term DNA‐PAINT Imaging

Small, Volume 22, Issue 9, 12 February 2026.
A simple, enzyme‐free, and cost‐effective oxygen scavenging system enhances DNA‐PAINT super‐resolution microscopy by increasing photostability, minimizing docking strand degradation, and enabling faster, high‐precision localizations. Its long‐term stability supports extended imaging, yielding improved spatial resolution and image quality.
Rebecca T. Perelman, George M. Church, Johannes Stein   +2 more
wiley   +1 more source

Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene. [PDF]

Sci Rep
Moteki H, Nishio SY, Usami SI.
europepmc   +1 more source

Унификационная проблема в предтабличной модальной логике PM2

Logiko-filosofskie studii, 2018
Унификационная проблема в предтабличной модальной логике ...
openaire   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Outcomes of dental autotransplantation in relation to dental root formation. Systematic review and meta-analysis. [PDF]

Biomed Eng Online
Rowland HG, Ferrer Molina M, Hijazi Alsadi T, Muwaquet Rodriguez S.   +3 more
europepmc   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Decreased IL-17-producing T_H cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies. [PDF]

J Allergy Clin Immunol Glob
Molnár E, Kovács G, Tahami F, Andrikovics H, Burns S, Grigoriadou S, Buckland M, Gilmour K.   +7 more
europepmc   +1 more source