Lv4
700 积分 2023-05-26 加入
Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update
14天前
已完结
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
26天前
已完结
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications
26天前
已完结
Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3
1个月前
已完结
[Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability]
1个月前
已完结
A genetic analysis of Chinese patients with early-onset Parkinson’ s disease
1个月前
已完结
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
1个月前
已完结
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review
1个月前
已完结
[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing]
1个月前
已完结
A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly
2个月前
已关闭
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