Lv4
430 积分 2021-09-28 加入
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients
1个月前
已关闭
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
1个月前
已完结
Hereditary Truncal Dystonia Associated with ANO3 Gene Variant
2个月前
已完结
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
2个月前
已完结
Marked hypotonia: An additional feature of ANO3-related movement disorder
2个月前
已完结
Marked hypotonia: An additional feature of ANO3-related movement disorder
2个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
2个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
2个月前
已完结
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
2个月前
已完结
A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia
2个月前
已完结
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