Lv1
20 积分 2023-08-30 加入
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1天前
已完结
Hemiplegic Migraine Associated With PRRT2 Variations
1个月前
已完结
GM3 synthase deficiency in non-Amish patients
1个月前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
1个月前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
1个月前
已关闭
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
1个月前
已关闭
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
1个月前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
2个月前
已完结
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
3个月前
已完结
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
5个月前
已完结
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