Lv2
150 积分 2025-02-23 加入
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families
2天前
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A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10
2个月前
已完结
Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy
4个月前
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Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
4个月前
已完结
Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case
4个月前
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Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene
4个月前
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Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa
4个月前
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Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
4个月前
已完结
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia
5个月前
已完结
Unilateral diaphragmatic paralysis: a matter for concern
5个月前
已关闭
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