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期刊名:American journal of medical genetics part c-seminars in medical genetics

缩写:AM J MED GENET C

ISSN:1552-4868

e-ISSN:1552-4876

IF/分区:2.5/Q3

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共收录本刊相关文章索引923
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
David H Ledbetter,Christa Lese Martin David H Ledbetter
It has been 15 years since we proposed that assays of telomere integrity might reveal cryptic translocations and deletions as a significant cause of mental retardation (MR) in patients with normal G-banded karyotypes. Development of unique ...
Douglas R Stewart,Tjitske Kleefstra Douglas R Stewart
The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are a...