Results 211 to 220 of about 191,471 (305)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Immune cell-mediated effects of plasma lipids on heart failure: A two-step, two-sample Mendelian randomization study. [PDF]

open access: yesMedicine (Baltimore)
Liu Z   +11 more
europepmc   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam   +4 more
wiley   +1 more source

Sickle Cell Disease: Historical Overview and Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

Causal link between maternal PCOS and fetal/neonatal hemorrhagic and hematological disorders: A 2-sample MR study. [PDF]

open access: yesMedicine (Baltimore)
Yang C   +9 more
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

Exploring the Reproductive Toxicity of Bisphenol S Through a Network Toxicology and Molecular Docking Analysis

open access: yesPediatric Discovery, EarlyView.
Utilizing network toxicology, molecular docking, and dynamic simulations to investigate the potential reproductive toxicity of bisphenol S (BPS). ABSTRACT The aim of this study was to investigate the potential reproductive toxicity of bisphenol S (BPS) and the related molecular mechanisms through a network toxicology approach.
Siyuan Wang   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy