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Mary C. Phelan

Veröffentlichungen von Mary C. Phelan zu Phelan, Mary C. ->
weitere Veröffentlichungen von Mary C. Phelan:
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present (1987)
The parental origin and mechanism of formation of three dicentric X chromosomes (1988)
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome (1985)
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities (1997)
Veröffentlichungen zu Phelan, Mary C.
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Schwartz, Charles, Fitch, Naomi, ... Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present
in: Human genetics , ISSN 1432-1203, Vol. 76 (1. 1987), p. 54-57
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1987
Summary Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter→q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100... mehr
Copyright: Copyright 1987 Springer-Verlag mehr
beteiligte Personen: Schwartz, Charles , Fitch, Naomi , Phelan, Mary C. , Richer, Claude-Lise , Stevenson, Roger
Erschienen: 1987.
Serie: Springer Online Journal Archives 1860-2000 [Dig. Serial]
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URL: http://dx.doi.org/10.1007/BF00283050
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2
Phelan, Mary C., Prouty, Leonard A., ... The parental origin and mechanism of formation of three dicentric X chromosomes
in: Human genetics , ISSN 1432-1203, Vol. 80 (1. 1988), p. 81-84
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1988
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3
Gusella, James F., Tanzi, Rudolph E., ... Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 318, No. 6041 (1985), p. 75-78
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1985
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4
Schröck, E., Veldman, T., ... Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
in: Human genetics , ISSN 1432-1203, Vol. 101 (3. 1997), p. 255-262
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1997