Lv21
180 积分 2025-06-30 加入
A SOX3 duplication and lumbosacral spina bifida in three generations
8天前
已完结
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
9天前
已完结
X-CGDbase: a database of X-CGD-causing mutations
9天前
已完结
Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome
21天前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
1个月前
已完结
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays]
2个月前
已完结
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency
5个月前
已完结
Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort
6个月前
已完结
Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome
7个月前
已关闭
A Newborn with Congenital Hyperinsulinism
9个月前
已完结
皖公网安备34019202002308
