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The manifesting carrier in Duchenne muscular dystrophy
- Pages: 271-284
- First Published: April 1974
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Autosomal recessive Cerebro-Oculo-Facio-Skeletal (COFS) syndrome
- Pages: 285-293
- First Published: April 1974
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The Cerebro-Oculo-Facio-Skeletal syndrome
- Pages: 294-297
- First Published: April 1974
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The MASA syndrome: A new heritable mental retardation syndrome
- Pages: 298-306
- First Published: April 1974
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Osteogenesis irnperfecta congenita: Report of a mother and son
- Pages: 307-311
- First Published: April 1974
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Serum dopamine-β-hydroxylase levels in Down's syndrome
- Pages: 312-315
- First Published: April 1974
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Complete failure of eruption of all permanent teeth: An autosomal dominant disorder
- Pages: 322-326
- First Published: April 1974
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Familial neuromuscular disease with “myotubes“
- Pages: 327-337
- First Published: April 1974
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Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa
- Pages: 338-343
- First Published: April 1974
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Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: II. α-galactosidase, β-galactosidase and α-arabinosidase
- Pages: 351-355
- First Published: April 1974
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Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: III, β-glucuronidase, N-acetyl-β-D-glucosaminidase, α-mannosidase and acid phosphatase
- Pages: 356-362
- First Published: April 1974
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Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli
- Pages: 363-367
- First Published: April 1974
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An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques
- Pages: 368-377
- First Published: April 1974