Lv32
260 积分 2025-02-27 加入
Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant
4小时前
已关闭
儿童眩晕症的诊断和治疗进展
11小时前
已完结
青少年和成人型Krabbe病的临床与遗传学特点
7天前
已完结
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy
17天前
已关闭
Identification of MeCP2 mutations in a series of females with autistic disorder
28天前
已关闭
Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene
1个月前
已完结
A case of 5p15.1-5p15.33 duplication and literature review
1个月前
已完结
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
1个月前
已完结
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome
1个月前
已完结
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
1个月前
已关闭
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