Results 121 to 130 of about 194,705 (317)

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

Short-chain fatty acids play a positive role in colorectal cancer

open access: yesDiscover Oncology
Short-chain fatty acids (SCFAs) are produced by bacterial fermentation in the colon and are thought to be protective against gastrointestinal disease.
Gang Liu   +3 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Electroestimulación y ejercicios de Williams en el tratamiento de la hernia de disco lumbar

open access: diamond, 2018
Edgar Garcia-Rojas   +9 more
openalex   +1 more source

P-079 RISK FACTORS FOR BOWEL RESECTION IN PATIENTS WITH INCARCERATED INGUINAL HERNIA. RETROSPECTIVE CLINICAL STUDY [PDF]

open access: bronze, 2023
Turgut Dönmez   +5 more
openalex   +1 more source

Interparietal Hernias

open access: yesCleveland Clinic Journal of Medicine, 1931
W E, Lower, N F, Hicken
openaire   +3 more sources

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock   +5 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

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