Lv61
1730 积分 2023-12-18 加入
Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay
1小时前
求助中
Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
1小时前
已完结
1p31.1 microdeletion including only NEGR1 gene in two patients
1小时前
已完结
Solitary and multiple xanthogranulomas in adult patients: a single-center retrospective cohort study
3天前
已完结
A Relapsed AML Case Featuring MYC and MECOM Rearrangements
3天前
已完结
Prenatal risk assessment of Xp21.1 duplication involving theDMDgene by optical genome mapping
5天前
已完结
FGF12 copy number variant associated with epileptic encephalopathy
21天前
已完结
Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms
21天前
已完结
Fork Stalling and Template Switching in a Complex der(6)dn with Duplication of 6q24.3qter and 6p25.3: A Case Report
1个月前
已关闭
Cytogenetic abnormalities and clinical correlations in peripheral T‐cell lymphoma
1个月前
已完结
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