Lv3
210 积分 2025-06-30 加入
22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS
1个月前
已关闭
A SOX3 duplication and lumbosacral spina bifida in three generations
1个月前
已完结
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
1个月前
已完结
X-CGDbase: a database of X-CGD-causing mutations
1个月前
已完结
Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome
2个月前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
2个月前
已完结
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays]
3个月前
已完结
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency
7个月前
已完结
Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort
8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
8个月前
已关闭
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