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- 616.04205 19
- Human chromosome abnormalities -- Periodicals 19
- Mutation (Biology) -- Periodicals 19
- AIP -- acromegaly and gigantism -- evolutionary genetics -- founder mutation -- population screening 1
- CIPA -- TRKA -- NGF -- pain -- neuropathy 1
- CSGALNACT1 -- chondroitin sulfate N‐acetylgalactosaminyltransferase‐1 -- skeletal dysplasia -- glycosaminoglycan -- proteoglycan 1
- Down syndrome -- trisomy 21 -- heteroplasmy -- cardiac -- mitochondrial variants -- massively parallel sequencing 1
- IGF2/H19 imprinted domain -- imprinting control region 1 -- deletions -- hypomethylation -- Silver–Russell syndrome 1
- Lynch syndrome -- functional assays -- splicing -- Variants of Uncertain Significance (VUS) -- multifactorial analysis -- microsatellite instability 1
- NR0B1 -- NR5A1 -- SOX9 -- 46, XX ovotesticular DSD -- 46, XX testicular DSD 1