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Journal Abstract Search

136 related items for PubMed ID: 7803123

  • 21.
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  • 23. [Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].
    Wang JM, Jiang YW, Shi HP, Zhang WM, Pan H, Bao XH, Wu Y, Qin J, Wu XR.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):378-82. PubMed ID: 16883521
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  • 24. Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome.
    Horn D, Witkowski R.
    Genet Couns; 1993 Aug; 4(4):305-9. PubMed ID: 8110420
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  • 27. 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
    Grammatico P, Majore S, Marrocco G, Poscente M, Mordenti C, Grammatico B, Del Porto G.
    Genet Couns; 1999 Aug; 10(4):351-8. PubMed ID: 10631922
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  • 29. Two unbalanced segregation products due to a maternal t(7;16)inv(16).
    Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM.
    Prenat Diagn; 2001 Jul; 21(7):550-2. PubMed ID: 11494289
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  • 30. Clinical significance of the satellited short arm of human chromosome 17 (17ps +) : a rare heteromorphism?
    Verma RS, Ved Brat S, Warman J, Dosik H.
    Ann Genet; 1979 Jul; 22(3):133-6. PubMed ID: 316666
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  • 35. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.
    Crolla JA.
    Am J Med Genet; 1998 Feb 03; 75(4):367-81. PubMed ID: 9482642
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  • 39. [Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].
    Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C.
    An Otorrinolaringol Ibero Am; 1999 Feb 03; 26(1):83-95. PubMed ID: 10091368
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  • 40. Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
    Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.
    J Appl Genet; 2005 Feb 03; 46(4):419-21. PubMed ID: 16278518
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