Lv21
200 积分 2024-12-19 加入
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
2小时前
已关闭
Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
2小时前
已完结
Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
5个月前
已完结
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia
5个月前
已完结
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
5个月前
已完结
Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia
5个月前
已完结
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis
8个月前
已完结
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