Lv2
160 积分 2022-04-08 加入
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
2年前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
2年前
已完结
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
2年前
已关闭
Identification of a Novel Oligomerization Disrupting Mutation inCRYΑAAssociated with Congenital Cataract in a South Australian Family
2年前
已关闭
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy
2年前
已关闭
Analyses ofFLGmutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV
2年前
已关闭
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
2年前
已关闭
Mosaicism in Tuberous Sclerosis Complex – Lowering the Threshold for Clinical Reporting
2年前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
2年前
已完结
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
2年前
已完结
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