Lv1
100 积分 2025-03-20 加入
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
1年前
已完结
P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form)
1年前
已完结
Schizophrenia in the genetic era: a review from development history, clinical features and genomic research approaches to insights of susceptibility genes
1年前
已完结
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian
1年前
已关闭
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
1年前
已完结
Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient
1年前
已完结
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