官方服务：
资源简介：
Prenatal diagnosis of renal tubular dysgenesis with novel REN mutation
应用场景：
创建时间：
2023-11-14
相关数据集
Homo sapiens (human blood) Genome sequencing. Homo sapiens
The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.
NIAID Data Ecosystem40
Whole-Exome Sequencing of the amniotic fluid in the fetus
Whole exome sequencing was used to investigate the genetic etiology of fetuses, parents and siblings, and to analyze the variation that may lead to abnormal phenotypes.
NIAID Data Ecosystem20
Assessment of NGS-miniSTR as a new detection strategy for chromosomal trisomy in prenatal diagnosis
Table S1. Raw miniSTR data on chromosome 16 for 70 trisomy and 70 normal karyotypes from the fetal materials in miscarriages. Table S2. Raw miniSTR data on chromosome 16, miniSTR profiling and CN
NIAID Data Ecosystem00
Table_1_Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.DOCX
Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF re
NIAID Data Ecosystem20
Expression profiles of amniotic fluid from human fetuses with Trisomy 18 and euploid controls
Expression profiles of amniotic fluid from human fetuses with Trisomy 18 and euploid controls
ChEBI2010-12-03 更新10
