相关实验视频

Updated: Mar 1, 2026

Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
09:31

Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography

Published on: January 27, 2023

1.7K

途径,以促进早期识别和诊断的低染色体增生症

Melita Irving1, Elena Greco2, Alessandra Cocca3

  • 1Guy's and St Thomas' NHS Trust, London, UK. melitairving@nhs.net.

Advances in therapy
|February 28, 2026
PubMed
概括

通过识别年龄特异性特征和利用分子测试,可以早期诊断骨发育不良症 (HCH),这是一个骨发育不良症. 这项研究旨在建立HCH的标准化诊断指南.

关键词:
诊断 诊断 诊断 诊断 诊断在FGFR3中.低性质形成不良症 (hypochondroplasia) 是一个严重的疾病.矮身的身材低矮的人.骨发育不良症 骨发育不良症

更多相关视频

Diaphragmatic Ultrasound in Adults: Image Acquisition and Interpretation05:51

Diaphragmatic Ultrasound in Adults: Image Acquisition and Interpretation

Published on: January 31, 2025

2.2K
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

321

相关概念视频

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
574
Respiratory System Abnormal Finding I: Inspection and Percussion01:30

Respiratory System Abnormal Finding I: Inspection and Percussion

Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
923