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34 积分 2024-01-31 加入
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
1个月前
已完结
Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents
2个月前
已完结
Fetal phenotypes of Mendelian disorders: A descriptive study from India
2个月前
已完结
Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray
2个月前
已完结
Mutation Ter462GlnextTer17 introduces a tail to C-terminus of protein C and causes venous thrombosis
3个月前
已完结
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis
3个月前
已完结
Genetic analysis of patients with low-frequency non-syndromic hearing loss
3个月前
已完结
Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria
3个月前
已完结
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
3个月前
已完结
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