Lv75
3430 积分 2021-07-09 加入
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
20天前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
20天前
已关闭
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
2个月前
已完结
Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report
3个月前
已完结
Fetal phenotypes of Mendelian disorders: A descriptive study from India
3个月前
已完结
Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants
4个月前
已完结
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
4个月前
已完结
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy
4个月前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
5个月前
已完结
Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease
7个月前
已完结
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