首页/数据集/Inherited Neuropathy Consortium Rare Disease Clinical Research Consortium (INC-RDCRC). Inherited Neuropathy Consortium Rare Disease Clinical Research Consortium (INC-RDCRC)

Inherited Neuropathy Consortium Rare Disease Clinical Research Consortium (INC-RDCRC). Inherited Neuropathy Consortium Rare Disease Clinical Research Consortium (INC-RDCRC)

NIAID Data Ecosystem2026-05-01 收录

遗传性神经病变

罕见病临床研究

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA994669 数据链接链接失效反馈

官方服务：

资源简介：

To be updated

应用场景：

创建时间：

2023-07-13

罕见病临床研究

神经遗传学

Supplementary Material 1.

Figshare2024-08-18 更新70

All intervals of 35 or more consecutive SNPs homozygous and identical by state among the six affected CMT samples.

遗传性神经病变

SNP单核苷酸多态性

Intervals are in descending order of number of consecutive SNPs, although the chromosome 9 italicized regions are contiguous.

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Disease course of Chronic Relapsing Inflammatory Optic Neuropathy (CRION) in a single care center

罕见病临床研究

视神经病变病程分析

ABSTRACT Background: Chronic relapsing inflammatory optic neuropathy (CRION) is a recurrent, idiopathic optic neuritis and is considered as a rare disease. Objective: To describe the clinical cour

NIAID Data Ecosystem30

Supplemental materials for incidence of unique complications in 25 adult patients with X-linked hypophosphatemia.

罕见病临床研究

X连锁低磷血症并发症

This is the dataset of clinical data of 25 adults with X-linked hypophosphatemia, which was the supplementary material for the paper entitled: "Incidence of unique complications in 25 adults patients

Figshare2021-03-27 更新70

Electrophysiologic findings of the three patients with PMP2 p.I43N mutation.

遗传性神经病变

神经电生理表型

Electrophysiologic findings of the three patients with PMP2 p.I43N mutation.

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