Lv21
103 积分 2025-05-20 加入
Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing
2小时前
待确认
SRD5A3-CDG: Twins with an intragenic tandem duplication
7天前
已关闭
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review
10天前
已完结
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up
10天前
已完结
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child
10天前
已完结
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene
11天前
已完结
Nephrotic syndrome in a child with neurofibromatosis type 1: A case report and literature review
15天前
已完结
Orthopaedic Manifestations of Thanatophoric Dwarfism
19天前
已关闭
Inherited Retinal Degenerations in the Pediatric Population
22天前
已完结
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features
22天前
已关闭
皖公网安备34019202002308
