Blot hybridisation analysis of genomic DNA.
S Vandenplas, I Wiid, A Grobler-Rabie, K Brebner, M Ricketts, G Wållis, A Bester, C Boyd, and C Måthew
J Med Genet 1984; 21: 164-172. doi:10.1136/jmg.21.3.164
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Homozygosity for autosomal dominant Marfan syndrome.
J Chemke, R Nisani, A Feigl, R Garty, M Cooper, Y Bårash, and D Duksin
J Med Genet 1984; 21: 173-177. doi:10.1136/jmg.21.3.173
[Abstract]
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Carrier detection in the testicular feminisation syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity.
M B Hodgins, E M Duke, and D Ring
J Med Genet 1984; 21: 178-181. doi:10.1136/jmg.21.3.178
[Abstract]
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Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy.
A Sensi, A Venturoli, S Traniello, M Lucci, C Vullo, C Conighi, P L Mattiuz, and O R Båricordi
J Med Genet 1984; 21: 182-185. doi:10.1136/jmg.21.3.182
[Abstract]
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Risk estimates for neonatal myotonic dystrophy.
A Glånz and F C Fråser
J Med Genet 1984; 21: 186-188. doi:10.1136/jmg.21.3.186
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Orofaciodigital syndrome with mesomelic limb shortening.
J Burn, C Dezateux, C M Hall, and M Baraitser
J Med Genet 1984; 21: 189-192. doi:10.1136/jmg.21.3.189
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Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
S A Al-Awadi, T I Fårag, K Naguib, M Y El-Khalifa, A Cuschieri, G Hosny, M Zahran, and A G Al-Ansari
J Med Genet 1984; 21: 193-196. doi:10.1136/jmg.21.3.193
[Abstract]
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Clinical and cytogenetic diversity in Fanconi's anaemia.
G Duckworth-Rysiecki, M Hultén, J Mann, and A M Taylor
J Med Genet 1984; 21: 197-203. doi:10.1136/jmg.21.3.197
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Cytological subdivision of the S phase of human cells in asynchronous culture.
J R Savage and R Prasad
J Med Genet 1984; 21: 204-212. doi:10.1136/jmg.21.3.204
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An analysis of the parental age effect for inv dup (15).
J M Connor and D H Gilmore
J Med Genet 1984; 21: 213-214. doi:10.1136/jmg.21.3.213
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Report of the Clinical Genetics Society Working Party on the role and training of clinical geneticists, September 1983.
R Harris
J Med Genet 1984; 21: 215. doi:10.1136/jmg.21.3.215
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Fragile site at 12q13 associated with phenotypic abnormalities.
S Moric-Petrovic and Z Laca
J Med Genet 1984; 21: 216-217. doi:10.1136/jmg.21.3.216
[Abstract]
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A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
F Nielsen and L Trånebjaerg
J Med Genet 1984; 21: 218-221. doi:10.1136/jmg.21.3.218
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Inv dup (15) with mental retardation but few dysmorphic features.
D H Gilmore, E Boyd, J P McClure, P Batstone, and J M Connor
J Med Genet 1984; 21: 221-223. doi:10.1136/jmg.21.3.221
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Interstitial deletion of the short arm of chromosome 4.
M Ray, J Evans, C Rockman-Greenberg, and D Wickstrom
J Med Genet 1984; 21: 223-225. doi:10.1136/jmg.21.3.223
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An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.
P R Scarbrough, J Daw, A J Carroll, and S C Finley
J Med Genet 1984; 21: 226-228. doi:10.1136/jmg.21.3.226
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Mosaic hexasomy 21.
A Ketupånyå, B F Crandåll, K Blanchard, and D W Rogers
J Med Genet 1984; 21: 228-230. doi:10.1136/jmg.21.3.228
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De novo translocation involving chromosomes 2, 8, and 20.
D V Zaletajev, G S Marincheva, and T G Tsvetkova
J Med Genet 1984; 21: 231. doi:10.1136/jmg.21.3.231
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49,XXYY, +18 in a liveborn male.
G C Webb, E J Krumins, M A Leversha, and G W Ford
J Med Genet 1984; 21: 232. doi:10.1136/jmg.21.3.232
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Ring (13),t(2;6) associated with familial fragile (16).
V Ventruto, A Rinaldi, S Renda, M Stabile, M M Rinaldi, M L Cavaliere, N Conte, and V Aveta
J Med Genet 1984; 21: 233. doi:10.1136/jmg.21.3.233
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Whole arm translocation t(1;13) in an infertile man.
N Moreau and M Teyssier
J Med Genet 1984; 21: 234-235. doi:10.1136/jmg.21.3.234
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