Results 181 to 190 of about 219,391 (317)

A Feasibility Study of Non-Invasive Prenatal Testing of Thalassemia by Haplotype Analysis Based on Next Generation Sequencing and Long-Read Sequencing   [PDF]

open access: green, 2023
Lei Wang   +12 more
openalex   +1 more source

Cost‐effectiveness of a hypothetical assay to evaluate stored blood quality prior to transfusion

open access: yesVox Sanguinis, EarlyView.
Abstract Background and Objectives Unsuccessful red blood cell (RBC) transfusion, necessitating unscheduled repeat transfusion, is common and costly. Several technologies have been developed to assess stored blood quality, but the potential cost‐effectiveness of pretransfusion testing versus no testing to prevent unscheduled re‐transfusion is unknown ...
Melissa C. Caughey   +3 more
wiley   +1 more source

The Perceived Role of God in Health and Illness: the Experience of Javanese Mothers Caring for a Child with Thalassemia [PDF]

open access: yes, 2011
Thalassemia is recognized as one of the major health problem in Indonesia. It is estimated that about 10% of Indonesian population are carrier of the mutated gene. Nevertheless Thalassemia is not well-understood by communities.
Widayanti, C. G. (Costrie)
core  

Astrocytic Chromatin Remodeler ATRX Gates Hippocampal Memory Consolidation Through Metabolic and Synaptic Regulation

open access: yesGlia, Volume 74, Issue 1, January 2026.
Astrocytic ATRX loss causes non‐cell‐autonomous neuronal hyperexcitability. Inducing ATRX deficiency in astrocytes causes selective long‐term memory deficits. Dynamic transcriptomic changes reveal metabolic and synaptic pathway dysregulation. ABSTRACT Astrocytes are increasingly recognized as active regulators of synaptic transmission and memory, yet ...
Miguel A. Pena‐Ortiz   +6 more
wiley   +1 more source

Risk of priapism after dynamic penile Doppler ultrasound: Single‐centre experience on a large cohort of patients

open access: yesAndrology, Volume 14, Issue 1, Page 178-183, January 2026.
Abstract Objectives To evaluate the risk of priapism in patients undergoing Dynamic—Penile duplex ultrasound (D‐PDU) who were referred to our Unit between January 2022 and December 2023. Patients and methods We enrolled 292 patients, of whom 268 underwent Dynamic—Penile duplex ultrasound for erectile dysfunction and 24 for Peyronie's disease.
Giuseppe Grande   +6 more
wiley   +1 more source

Application of third-generation sequencing technology in the genetic testing of thalassemia

open access: yesMolecular Cytogenetics
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
Weihao Li, Yanchou Ye
doaj   +1 more source

HbE/β-Thalassemia and Oxidative Stress: The Key to Pathophysiological Mechanisms and Novel Therapeutics

open access: green, 2016
Rhoda Elison Hirsch   +3 more
openalex   +1 more source

Importance and Potential of Rare Disease Research in Pediatric Rheumatology and Beyond: Pushing Frontiers

open access: yesACR Open Rheumatology, Volume 7, Issue 12, December 2025.
Although individually occurring in less than 1 in 2,000 people, cumulatively, more than 7,000 rare diseases affect approximately 6% of the population worldwide. Children and young people are disproportionally challenged in number and severity, which may be explained by the large proportion of genetic conditions among rare diseases (70%–80%). Indeed, an
Christian M. Hedrich
wiley   +1 more source

Conformational lock and thermal inactivation kinetics of Euphorbia amine oxidase [PDF]

open access: yes
The kinetics of thermal inactivation of copper-containing amine oxidase from euphorbia latex (ELAO) were studied in a 100-mM sodium phosphate buffer, pH 7, using cadavarine as the substrate.
امانی, مجتبی   +6 more
core  

Advancing Clinical Medicine with Raman Spectroscopy: Current Trends and Future Perspectives

open access: yesAdvanced Photonics Research, Volume 6, Issue 12, December 2025.
Raman spectroscopy and microscopy may become excellent tools in clinical medicine, including hematology, oncology, infectious diseases, neurology, gastroenterology, reproductive medicine, rheumatology, and cardiovascular research. However, many challenges such as signal interference, standardization issues, and limited clinical application need to be ...
Jiří Bufka   +5 more
wiley   +1 more source

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