Lv1
70 积分 2024-06-12 加入
Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy
11天前
已完结
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
13天前
已关闭
Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells
17天前
已完结
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations
18天前
已关闭
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
19天前
已关闭
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
22天前
已完结
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
23天前
已关闭
RYR3 Variants Are Potentially Associated With Idiopathic (Non‐Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene‐Disease Association by Genetic Dependent Nature
1个月前
已完结
Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells
1个月前
已完结
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation
1个月前
已完结
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