Lv4
800 积分 2023-05-26 加入
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype
1天前
待确认
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
1天前
待确认
Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern
6天前
已完结
‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22
8天前
已完结
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome
15天前
已完结
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2
15天前
已完结
Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update
2个月前
已完结
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
2个月前
已完结
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications
2个月前
已完结
Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3
2个月前
已完结
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