Works matching IS 00099163 AND DT 1990 AND VI 38 AND IP 5
Results: 15
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 359, doi. 10.1111/j.1399-0004.1990.tb03595.x
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- Article
Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 321, doi. 10.1111/j.1399-0004.1990.tb03589.x
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Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 332, doi. 10.1111/j.1399-0004.1990.tb03591.x
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Diabetes mellitus in a young man with Bloom's syndrome.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 387, doi. 10.1111/j.1399-0004.1990.tb03601.x
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Three years' diagnostic experience with direct karyotyping of neonatal blood.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 371, doi. 10.1111/j.1399-0004.1990.tb03597.x
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Cardio-facio cutaneous syndrome: neurological manifestations.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 382, doi. 10.1111/j.1399-0004.1990.tb03600.x
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A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 353, doi. 10.1111/j.1399-0004.1990.tb03594.x
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A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 346, doi. 10.1111/j.1399-0004.1990.tb03593.x
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- Article
Autosomal dominant craniosynostosis of the sutura metopica.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 374, doi. 10.1111/j.1399-0004.1990.tb03598.x
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Letters to the Editors.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 396, doi. 10.1111/j.1399-0004.1990.tb03603.x
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- Article
Fetal hydrops in Sardinia: implications for genetic counselling.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 327, doi. 10.1111/j.1399-0004.1990.tb03590.x
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The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 378, doi. 10.1111/j.1399-0004.1990.tb03599.x
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- Article
Amniotic fluid microvillar enzyme activity in fetal malformations.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 340, doi. 10.1111/j.1399-0004.1990.tb03592.x
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- Article
Partial lipodystrophy syndromes - a further male case.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 391, doi. 10.1111/j.1399-0004.1990.tb03602.x
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- Article
Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases.
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- Clinical Genetics, 1990, v. 38, n. 5, p. 362, doi. 10.1111/j.1399-0004.1990.tb03596.x
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- Article