DRKS00023169招募中未知
Deep phenotyping and functional characterization of autophagy- and proteostasis-associated candidate genes for congenital disorders of immunity and neurodevelopment in the age of next generation sequencing - caprica
niversitätsklinikum Köln0 个研究点目标入组 200 人开始时间: 2021年6月11日最近更新:
适应症
试验速览
- 阶段
- 未知
- 状态
- 招募中
- 发起方
- 入组人数
- 200
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Interventional
- 分配方式
- N/a: Single Arm Study
- 盲法
- Open (masking not used)
入排标准
- 年龄范围
- one 至 one（—）
- 性别
- All
入选标准
- •a) informed consent of parents and/or patient
- •b) patients with a delay in neurological development, or with a suspicion thereof, based on clinical, morphological, biochemical or moleculargenetic evidence,
- •c) patients with an immunodeficiency, or with a suspicion thereof, based on clinical, morphological, biochemical or moleculargenetic evidence,
- •d) asymptomatic probands/mutation carriers, related to a patient with a secured or suspected delay of neurological development and/or immunodeficiency
排除标准
- •a) when none of the inclusion criteria meet
研究者
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