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630 积分 2022-03-31 加入
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
17小时前
待确认
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
17小时前
待确认
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients
1天前
待确认
A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family
4天前
已完结
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease
15天前
已完结
Clinical characteristics of patients with unilateral auditory neuropathy
29天前
已完结
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder
29天前
已完结
End-plate gamma- and varepsilon-subunit mRNA levels in AChR deficiency syndrome due to varepsilon-subunit null mutations
29天前
已完结
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)—A Molecular Dynamics Approach
1个月前
已完结
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia
1个月前
已完结
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