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40 积分 2024-04-22 加入
[Genetics of neurodevelopmental disorders. Practical aspects]
15小时前
求助中
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
17小时前
已完结
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
19天前
已完结
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
4个月前
已完结
Brief Report: Systematic Review of Rett Syndrome in Males
5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
5个月前
已完结
单基因相关全面发育落后和智力障碍的遗传学研究及预防进展
5个月前
已完结
Deciphering Intellectual Disability
5个月前
已完结
Nature of Intellectual Disability
5个月前
已完结
New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease
5个月前
已关闭
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