Lv32
224 积分 2024-04-25 加入
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants
8小时前
待确认
Mechanisms underlying phenotypic variation in neurogenetic disorders
4天前
已完结
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
5天前
已完结
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome
7天前
已完结
Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain
7天前
已完结
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
7天前
已完结
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations
7天前
已完结
Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis
8天前
已完结
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
8天前
已完结
Simpson–Golabi–Behmel syndrome
8天前
已完结
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