Lv1
40 积分 2024-04-22 加入
Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment
1个月前
已完结
Harel-Yoon综合征一家系临床表型及ATAD3A基因变异分析
3个月前
已完结
Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
5个月前
已完结
[Genetics of neurodevelopmental disorders. Practical aspects]
5个月前
已关闭
[Genetics of neurodevelopmental disorders. Practical aspects]
6个月前
已关闭
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
6个月前
已完结
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
6个月前
已完结
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
10个月前
已完结
Brief Report: Systematic Review of Rett Syndrome in Males
11个月前
已完结
Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene
11个月前
已完结
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