Results 141 to 150 of about 188,655 (392)
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 +7 more
wiley +1 more source
Analysis and simulation of progressive adolescent scoliosis by biomechanical growth modulation [PDF]
, 2007 Ian A. F. Stokes
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Recent advances of non‐invasive sensors for smart wearable respiratory monitoring
VIEW, EarlyView.Respiration contains rich physiological and pathological information, making it one of the most fundamental and continuous vital signs. Respiration monitoring is a non‐invasive and simple, but incredibly powerful, tool for assessing health, managing disease, and tracking fitness.
Jianhui Chen +8 more
wiley +1 more source
Sclerostin and Its Involvement in the Pathogenesis of Idiopathic Scoliosis [PDF]
, 2021 Elias Vasiliadis +4 more
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Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, EarlyView.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia
Clinical Genetics, EarlyView.Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong +8 more
wiley +1 more source
Barnes Hospital Bulletin [PDF]
, 1986 https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1243/thumbnail ...
core +1 more source
Mini-open anterior instrumentation with diaphragm sparing for thoracolumbar idiopathic scoliosis: its technique and clinical results [PDF]
, 2010 Yong Qiu +6 more
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