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58 积分 2024-02-21 加入
Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
3天前
已关闭
A Japanese boy with SUPT16H ‐related neurodevelopmental disorder and congenital heart defects
6天前
已完结
A new case of SUPT16H-associated syndromic neurodevelopmental delay
6天前
已关闭
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion
16天前
已完结
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa
18天前
已完结
Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution
20天前
已关闭
Age and race differences in the trajectories of self-esteem
23天前
已完结
Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
27天前
已完结
Targeting REV-ERBα/BNIP3 axis attenuates pulmonary arterial hypertension by repressing mitophagy in mice
29天前
已完结
Investigating genotype‐phenotype correlations in primary ciliary dyskinesia: a sibling cohort study
29天前
已完结
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