Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders - PubMed (original) (raw)
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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders
N Tommerup. J Med Genet. 1993 Sep.
No abstract available
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References
- Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9 - PubMed
- Am J Hum Genet. 1992 Apr;50(4):690-9 - PubMed
- Am J Hum Genet. 1992 Apr;50(4):725-41 - PubMed
- Hum Genet. 1992 Mar;88(6):668-72 - PubMed
- J Med Genet. 1992 Mar;29(3):175-9 - PubMed
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