Lv2
110 积分 2025-02-23 加入
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
2天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
2天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
2天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1个月前
已关闭
Mutation screening of AOPEP variants in a large dystonia cohort
1个月前
已完结
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families
2个月前
已关闭
A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10
4个月前
已完结
Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy
6个月前
已关闭
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
6个月前
已完结
Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case
6个月前
已关闭
皖公网安备34019202002308
