Lv4
587 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
Antenatal Phenotype of Desbuquois Dysplasia
21小时前
已完结
Data-driven consideration of genetic disorders for global genomic newborn screening programs
1天前
已完结
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
1天前
已完结
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
1天前
已完结
Genetic Architecture of Congenital Cataracts: Correlation of Pathogenic Variants with Morphology and Clinical Outcomes
2天前
求助中
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
4天前
已完结
Dual SORT LNPs for multi-organ base editing
5天前
已完结
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
5天前
已关闭
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease
7天前
已关闭
Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants
7天前
已关闭
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