Lv11
20 积分 2024-09-10 加入
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
1小时前
待确认
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling]
2小时前
已完结
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection]
2小时前
已完结
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing]
2小时前
已完结
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis]
2小时前
已完结
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
1个月前
已完结
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human
2个月前
已完结
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. Parkinsonism & Related Disorders
2个月前
已完结
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
2个月前
已完结
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