Results 111 to 120 of about 54,044 (261)

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila   +11 more
wiley   +1 more source

Translation and Validation of the Standardized Cosmesis and Health Nasal Outcomes Survey in Hebrew. [PDF]

open access: yesPlast Reconstr Surg Glob Open
Damti Geva S   +8 more
europepmc   +1 more source

The Effect of LRRK2 and GBA1 Mutations on Survival in Early‐ and Late‐Onset Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Mutations in the glucocerebrosidase 1 (GBA1) and leucine‐rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. Objective To asses the contribution of genetic status to long‐term survival of patients with PD.
Raz Rubin   +6 more
wiley   +1 more source

Are Age and Voided Volume Sufficient to Predict Detrusor Underactivity in Women? An External Validation Study

open access: yesNeurourology and Urodynamics, EarlyView.
ABSTRACT Purpose Detrusor underactivity (DU) is a significant cause of female lower urinary tract symptoms. We aimed to externally validate a non‐invasive prediction model using age and voided volume (VV) in a tertiary center cohort. Methods This retrospective study included 450 consecutive women who underwent uroflowmetry and subsequently multichannel
Netanel Levin   +7 more
wiley   +1 more source

A recipe for recovery: diet as a decisive tool in species conservation

open access: yesOikos, EarlyView.
Animals consume foods in specific quantities and ratios to meet a multi‐dimensional nutrient target that maximizes their fitness. Attempts to reach this target in an ever‐changing nutritional landscape often influence animal foraging behavior, habitat choice, and food‐web interactions. Consequently, understanding the nutritional ecology of a species is
Noa Lavie   +3 more
wiley   +1 more source

Using Disease-Agnostic Genomic Liquid Biopsy in Complex Diagnoses: Real-Life Example of cfChIP-Seq in a Fever of Unknown Origin. [PDF]

open access: yesJCO Precis Oncol
Agmon Gutin O   +7 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang   +11 more
wiley   +1 more source

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Quantitative assessment of the impact of cytomegalovirus (CMV) infection on fetal brain development beyond conventional imaging remains limited. We aimed to quantify cortical gyrification and brain volumes in CMV‐exposed fetuses, compare groups with varying severities of conventional MRI findings, and evaluate postnatal outcomes ...
Or R. Sadan   +14 more
wiley   +1 more source

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