Lv51
810 积分 2024-09-21 加入
An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report
12天前
已完结
The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions
12天前
已完结
A-264 Neurodevelopmental Disorder associated with 8p23.1 Microdeletion Syndrome: A Pediatric Case Study
1个月前
已完结
The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions
1个月前
已完结
Clinical phenotypic spectrum of NRXN1 microdeletions and their association with epilepsy: A systematic review and meta‐analysis
1个月前
已完结
9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
2个月前
已完结
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay
2个月前
已完结
Maternally inherited duplication of the possible imprinted 14q31 region
2个月前
已关闭
Implication of non-coding PAX6 mutations in aniridia
2个月前
已关闭
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis
2个月前
已完结
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