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You searched for: Author/Creator Gärtner, J- Gärtner, J [remove] 4
- Medical genetics -- Periodicals 4
- 616.042 2
- 616.0420 2
- HGVS, Human Genome Variation Society -- IRD, infantile Refsum disease -- NSF, N-ethylmaleimide sensitive factor -- NTD, N terminal domain -- PBD, peroxisome biogenesis disorder -- RCDP, rhizomelia chondrodysplasia punctata -- VCP, valosin containing protein 1
- PEX1 -- peroxin -- peroxisome biogenesis disorder -- Zellweger syndrome 1
- Rett syndrome -- mild disease -- skewed X inactivation -- aggression 1
- array comparative genomic hybridization -- copy number variants -- developmental delay -- intellectual disability -- microdeletion and microduplication syndromes 1