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Journal Abstract Search

161 related items for PubMed ID: 10982473

  • 21. MASA syndrome: clinical variability and linkage analysis.
    Rietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K.
    Am J Med Genet; 1991 Oct 01; 41(1):10-4. PubMed ID: 1951449
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  • 23. Evidence of a third locus in X-linked recessive spastic paraplegia.
    Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U.
    Hum Genet; 1997 Aug 01; 100(2):287-9. PubMed ID: 9254866
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  • 27. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
    Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G.
    Eur J Hum Genet; 1999 Aug 01; 7(7):828-32. PubMed ID: 10573017
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  • 30. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
    Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ.
    Eur J Hum Genet; 1995 Aug 01; 3(5):273-84. PubMed ID: 8556302
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  • 31. Linkage of nonspecific X-linked mental retardation to Xq21.31.
    Jedele KB, Michels VV, Schaid DJ, Schowalter KV, Thibodeau SN.
    Am J Med Genet; 1995 Aug 01; 43(1-2):436-42. PubMed ID: 1605223
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  • 32. Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
    Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu AN, Ozgüç M.
    Neuropediatrics; 1998 Aug 01; 29(4):189-94. PubMed ID: 9762694
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  • 34. Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
    Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S.
    J Med Genet; 1993 Mar 01; 30(3):214-7. PubMed ID: 8474107
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  • 38. Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2).
    Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC.
    Am J Med Genet; 1988 Mar 01; 30(1-2):493-508. PubMed ID: 3177467
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  • 40. SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
    Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K.
    Cold Spring Harb Mol Case Stud; 2017 Jul 01; 3(4):. PubMed ID: 28679690
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