Lv4
690 积分 2025-02-23 加入
Genetic analysis of two couples with a history of multiple fetal malformations
1个月前
已完结
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies
1个月前
已完结
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
1个月前
已完结
Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci
2个月前
已完结
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease
2个月前
已完结
Advancements and future directions in Oguchi disease research
2个月前
已完结
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan
2个月前
已完结
Two sporadic cases of Liddle's syndrome caused by De novo ENaC mutations
2个月前
已关闭
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