Results 171 to 180 of about 370,897 (400)
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans [PDF]
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
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]
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
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]
Pavel Vojtovič +8 more
openalex +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
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
Insight into the Genetic Relevance of Congenital Heart Defects [PDF]
Jin‐Chung Shih
openalex +1 more source
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]
Qin Wu +7 more
openalex +1 more source

