Background: There is a paucity of information on epidemiology, diagnosis, and treatment outcomes of congenital nephrotic syndrome (CNS) in developing countries. Methods: Retrospective (2012–2017) revi

Figshare2019-10-25 更新10

Table 1_Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.docx

儿科遗传诊断

癫痫遗传学

BackgroundWe aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS). Materials and methodsWe included childr

NIAID Data Ecosystem00

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

儿科遗传诊断

染色体微阵列临床效用

Background Developmental disorders (DD), including autism spectrum disorder (ASD) and intellectual disability (ID), are a common group of clinical manifestations caused by a variety of genetic abnorma

NIAID Data Ecosystem20

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

儿科遗传诊断

临床决策评估

BackgroundDevelopmental disorders (DD), including autism spectrum disorder (ASD) and intellectual disability (ID), are a common group of clinical manifestations caused by a variety of genetic abnormal

Figshare2016-12-31 更新00

The Clinical impact of Chromosomal microarray on Paediatric care in Hong Kong (CGX-12)

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