Results 231 to 240 of about 227,365 (300)

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

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report. [PDF]

open access: yesCureus
Joy P   +7 more
europepmc   +1 more source

First-Trimester mRNA COVID-19 Vaccination and Risk of Major Congenital Anomalies.

open access: yesJAMA Netw Open
Bernard C   +10 more
europepmc   +1 more source

Pediatric demographics and regional trends from congenital anomalies of the kidney and urinary tract: A U.S. population-based study from 1999 to 2020. [PDF]

open access: yesMedicine (Baltimore)
Ibrahim M   +11 more
europepmc   +1 more source

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