Lv1
40 积分 2023-08-30 加入
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
1天前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
21天前
已完结
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
1个月前
已完结
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
3个月前
已完结
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]
3个月前
已完结
Genetic analysis of 18 families with tuberous sclerosis complex
4个月前
已完结
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution
4个月前
已完结
[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]
4个月前
已关闭
[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation]
4个月前
已关闭
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome
4个月前
已关闭
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