A possible human homologue for the mouse mutant disorganisation.
R M Winter and D Donnai
J Med Genet 1989; 26: 417-420. doi:10.1136/jmg.26.7.417
[Abstract]
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Disorganisation: a model for 'early amnion rupture'?
D Donnai and R M Winter
J Med Genet 1989; 26: 421-425. doi:10.1136/jmg.26.7.421
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Testing for cystic fibrosis using allelic association.
A J Ivinson, A P Read, R Harris, M Super, M Schwarz, J Clayton Smith, and R Elles
J Med Genet 1989; 26: 426-430. doi:10.1136/jmg.26.7.426
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T cell receptor beta chain polymorphisms are associated with cystic fibrosis.
S A McMillan, A J Hill, C A Graham, N C Nevin, and A C Fay
J Med Genet 1989; 26: 431-433. doi:10.1136/jmg.26.7.431
[Abstract]
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Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.
A Smith, I S Fraser, R P Shearman, and P Russell
J Med Genet 1989; 26: 434-438. doi:10.1136/jmg.26.7.434
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Fragile X testing in a diagnostic cytogenetics laboratory.
L E Voullaire, G C Webb, and M Leversha
J Med Genet 1989; 26: 439-442. doi:10.1136/jmg.26.7.439
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Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.
L M Curfs, G Schreppers-Tijdink, A Wiegers, M Borghgraef, and J P Fryns
J Med Genet 1989; 26: 443-446. doi:10.1136/jmg.26.7.443
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Severe Silver-Russell syndrome.
D Donnai, E Thompson, J Allanson, and M Baraitser
J Med Genet 1989; 26: 447-451. doi:10.1136/jmg.26.7.447
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Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.
P Maraschio, R Tupler, E Dainotti, M Piantanida, G Cazzola, and L Tiepolo
J Med Genet 1989; 26: 452-456. doi:10.1136/jmg.26.7.452
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Kyphomelic dysplasia.
I K Temple, E M Thompson, C M Hall, G Bridgeman, and M E Pembrey
J Med Genet 1989; 26: 457-461. doi:10.1136/jmg.26.7.457
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A case of two inversion (10) recombinants in a family.
P Roberts, J Williams, and M A Sills
J Med Genet 1989; 26: 461-464. doi:10.1136/jmg.26.7.461
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Sibs lacking characteristic features of duplication of distal 17q.
S Ohdo, H Madokoro, T Sonoda, and K Ohba
J Med Genet 1989; 26: 465-468. doi:10.1136/jmg.26.7.465
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Ring chromosome 15 in a patient with features of Fryns' syndrome.
G de Jong, R A Rossouw, and A E Retief
J Med Genet 1989; 26: 469-470. doi:10.1136/jmg.26.7.469
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Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
R C Shepherd, D R Goudie, and J L Tolmie
J Med Genet 1989; 26: 470-472. doi:10.1136/jmg.26.7.470
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The SHORT syndrome: further delineation and natural history.
A H Lipson, C Cowell, and R J Gorlin
J Med Genet 1989; 26: 473-475. doi:10.1136/jmg.26.7.473
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