Lv11
40 积分 2024-10-17 加入
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
18天前
已完结
Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report
1个月前
已完结
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
4个月前
已完结
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
4个月前
已完结
Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy
6个月前
已完结
Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients
6个月前
已完结
Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation
6个月前
已完结
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis
7个月前
已完结
Dandy–Walker malformation in an infant with tetrasomy 9p
7个月前
已完结
A very rare case of a newborn with tetrasomy 9p and literature review
7个月前
已完结
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