Results 311 to 320 of about 1,611,491 (358)

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

Prenatal 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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

A graph-based cardiac arrhythmia classification methodology using one-lead ECG recordings. [PDF]

Intell Syst Appl
EPMoghaddam D, Muguli A, Razavi M, Aazhang B.   +3 more
europepmc   +1 more source

Large Language Models in Cardiovascular Imaging: Current Applications and Future Prospects

Med Research, EarlyView.
Weifeng Yuan, Rong Xu, Shengkun Peng, Yingkun Guo   +3 more
wiley   +1 more source

Ethanolic Extracts of Cupressaceae Species Conifers Provide Rapid Protection against Barium Chloride-Induced Cardiac Arrhythmia. [PDF]

Pharmaceuticals (Basel)
Zeng MT, Huang LY, Zheng XH, Fu YQ, Weng CF.   +4 more
europepmc   +1 more source

Unleashing an Underlying Serious Cardiac Arrhythmia: A Case of Coronary Vasospasm With Atypical Presentation. [PDF]

Cureus
Baig MA, Elmogy A, Hegazy Y, Ghallab M, Ahmed MS.   +4 more
europepmc   +1 more source

A Neural Network Approach for Cardiac Arrhythmia Classification

, 2013
R. Ganesh Kumar, Y. S. Kumaraswamy
openalex   +1 more source

Connexin43, A Promising Target to Reduce Cardiac Arrhythmia Burden in Pulmonary Arterial Hypertension. [PDF]

Int J Mol Sci
Sykora M, Szeiffova Bacova B, Andelova K, Egan Benova T, Martiskova A, Kurahara LH, Hirano K, Tribulova N.   +7 more
europepmc   +1 more source