Journal of Medical Genetics


ISSN: 0022-2593        年代:1992
当前卷期:Volume 29  issue 6     [ 查看所有卷期 ]

年代:1992
 
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1. Molecular genetics of neurological tumours.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  361-367

R YChung,   B RSeizinger,  

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2. Experience with direct molecular diagnosis of fragile X.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  368-374

J CMulley,   SYu,   A KGedeon,   ADonnelly,   GTurner,   DLoesch,   C JChapman,   R JGardner,   R IRichards,   G RSutherland,  

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3. Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  375-380

LNuytinck,   PNarcisi,   ANicholls,   J PRenard,   F MPope,   ADe Paepe,  

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4. Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  381-382

Lal-Imara,   A JRichards,   R AEady,   I MLeigh,   MFarrall,   F MPope,  

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5. Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  383-389

BUdd,  

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6. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  390-392

S EHolder,   G MVintiner,   BFarren,   SMalcolm,   R MWinter,  

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7. No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  393-397

G MVintiner,   S EHolder,   R MWinter,   SMalcolm,  

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8. Use of oocytes from anonymous, matched, fertile donors for prevention of heritable genetic diseases.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  398-399

B JVan Voorhis,   R AWilliamson,   J LGerard,   D GHammitt,   C HSyrop,  

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9. A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  400-406

KColes,   MMackenzie,   JCrolla,   JHarvey,   JStarr,   FHoward,   PJacobs,  

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10. Distal 8p deletion (8p23.1----8pter): a common deletion?
  Journal of Medical Genetics,   Volume  29,   Issue  6,   1992,   Page  407-411

RHutchinson,   MWilson,   LVoullaire,  

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