Results 171 to 180 of about 370,897 (400)

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans [PDF]

open access: bronze, 2016
Saeed Al Turki   +38 more
openalex   +1 more source

Respiratory Motion‐Corrected Model‐Based 3D Water‐Fat MRA of the Thorax at 0.55 T

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The goal of this study was to develop a 5‐min 3D MRA acquisition at 0.55 T with predictable scan time, 100% data efficiency, and robust water‐fat separation. Methods For full data efficiency, the proposed method combined self‐gating with retrospective motion correction while ensuring a predictable 5‐min scan time.
Robert Stoll   +5 more
wiley   +1 more source

Features of the structure of heart [PDF]

open access: yes, 2017
Introduction. Knowledge of century features of a structure of heart of newborns is necessary for diagnostics and treatment of defects of heart, in connection with the high level of birth rate of children with defects of heart.
Moskalenko, E.A.
core  

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel   +17 more
wiley   +1 more source

Delayed sternal closure in newborns after surgery for congenital heart defect [PDF]

open access: bronze, 2009
Pavel Vojtovič   +8 more
openalex   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

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

Clinical investigation of congenital heart defects in prenatal life: a retrospective study on 198 cases [PDF]

open access: bronze, 2017
Qin Wu   +7 more
openalex   +1 more source

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