Results 211 to 220 of about 101,177 (312)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Aorto-mesenteric space reduction in women with anorexia nervosa: retrospective audit and analysis. [PDF]

open access: yesJ Eat Disord
Taieb L   +7 more
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner   +11 more
wiley   +1 more source

Intra-biliary cleansing during secondary duodenoscopic removal of duodenal bend biliary stents: A retrospective cohort study. [PDF]

open access: yesWorld J Gastrointest Surg
Zhang HL   +9 more
europepmc   +1 more source

From HBV to MASLD Cirrhosis: Mechanistic Insights and Therapeutic Strategies

open access: yesPortal Hypertension &Cirrhosis, EarlyView.
This review examines the epidemiological shift from hepatitis B virus (HBV) to metabolic dysfunction‐associated steatotic liver disease (MASLD) as the leading cause of cirrhosis globally. It highlights the distinct pathogenic mechanisms between HBV and MASLD cirrhosis and discusses evolving diagnostic tools and therapeutic strategies tailored to the ...
Hanqi Yu   +5 more
wiley   +1 more source

Acute Inflammatory Demyelinating Polyradiculoneuropathy‐like Associated with Subcutaneous Foslevodopa–Foscarbidopa: First Report

open access: yes
Movement Disorders, EarlyView.
Heloise Cochez   +6 more
wiley   +1 more source

Small intestinal microbial fiber metabolism dysfunction in celiac disease. [PDF]

open access: yesNat Commun
Wulczynski M   +15 more
europepmc   +1 more source

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