Lv62
2460 积分 2023-08-20 加入
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
17天前
已完结
Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations
17天前
已完结
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
17天前
已完结
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
17天前
已完结
A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis
28天前
已完结
Molecular and Genetic Mechanisms in Autism Spectrum Disorder
1个月前
已完结
Ablation of dysmorphic neurons is a safe and effective treatment for focal cortical dysplasia II
1个月前
已完结
AAV9-Mediated Gene Therapy for Infantile-Onset Pompe’s Disease
2个月前
已完结
In utero genetic therapy: Treatment of early onset neurological disorders before they start
2个月前
已关闭
Prevalence, incidence, and characteristics of autism spectrum disorder among children in Beijing, China
3个月前
已完结
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