Lv1
38 积分 2024-02-21 加入
Defective pulmonary vascular remodeling in Smad8 mutant mice
14天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
15天前
已完结
Identification of three novel frameshift mutations of theMVKgene in four Chinese families with disseminated superficial actinic porokeratosis
16天前
已完结
Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution
22天前
已完结
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea
23天前
已完结
Chromosome 17q23.1-q23.2 deletion syndrome with severe pulmonary hypertension in neonates: two case reports and literature review
23天前
已完结
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
23天前
已完结
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
23天前
已完结
Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
1个月前
已关闭
A Japanese boy with SUPT16H ‐related neurodevelopmental disorder and congenital heart defects
1个月前
已完结
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