Lv4
517 积分 2024-12-05 加入
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients
2天前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
9天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
9天前
已完结
Newborn screening for primary carnitine deficiency in Quanzhou, China
10天前
已完结
PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review
18天前
已完结
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
19天前
已完结
Neonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with FHL2 variant: a case report suggesting possible novel phenotypes
26天前
已完结
[A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review]
26天前
已完结
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa
1个月前
已完结
Progress of newborn screening in China
1个月前
已完结
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