Lv4
470 积分 2021-06-27 加入
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
1个月前
已完结
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
1个月前
已完结
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
1个月前
已完结
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
1个月前
已完结
Phenotypic impact of genomic structural variation: insights from and for human disease
2个月前
已完结
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
3个月前
已完结
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing
5个月前
已关闭
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing
5个月前
已关闭
Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome
5个月前
已完结
Small nuclear RNA genes in Mendelian disorders
6个月前
已完结
皖公网安备34019202002308
