Lv41
430 积分 2023-07-21 加入
Clinical and molecular findings in children with retinitis pigmentosa
8小时前
待确认
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
1个月前
已完结
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
1个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
1个月前
已完结
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing
1个月前
已完结
Molecular Alterations in Vaginal Melanomas: Report of 4 Cases and Literature Review
1个月前
已关闭
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
1个月前
已完结
Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population
2个月前
已完结
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann–Pick type C disease
2个月前
已完结
Cell Fate Determination of the Potato Shoot Apex and Stolon Tips Revealed by Single‐Cell Transcriptome Analysis
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