Works matching IS 00099163 AND DT 1985 AND VI 28 AND IP 6
Results: 15
Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 550, doi. 10.1111/j.1399-0004.1985.tb00425.x
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- Article
The Aase-Smith syndrome.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 521, doi. 10.1111/j.1399-0004.1985.tb00420.x
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- Article
Morphology of cystic fibrosis at 17 weeks of gestation.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 561, doi. 10.1111/j.1399-0004.1985.tb00427.x
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- Article
Ectodermal manifestations in Menkes disease.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 532, doi. 10.1111/j.1399-0004.1985.tb00422.x
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- Article
Hirschsprung disease: a genetic study.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 503, doi. 10.1111/j.1399-0004.1985.tb00417.x
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- Article
The humble fibroblast - a curiosity or a cell model for human genetic research.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 565, doi. 10.1111/j.1399-0004.1985.tb00428.x
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- Article
Mosaic tetrasomy 12p.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 495, doi. 10.1111/j.1399-0004.1985.tb00416.x
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- Article
Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22).
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- Clinical Genetics, 1985, v. 28, n. 6, p. 546, doi. 10.1111/j.1399-0004.1985.tb00424.x
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Ring chromosome 21 in a phenotypically normal but infertile man.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 541, doi. 10.1111/j.1399-0004.1985.tb00423.x
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The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia Further evidence for autosomal recessive inheritance.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 516, doi. 10.1111/j.1399-0004.1985.tb00419.x
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An unusual case of X-15 translocation: evidence for the presence of an 'activator' region on Xpter of Man.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 556, doi. 10.1111/j.1399-0004.1985.tb00426.x
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- Article
Information about diploid-tetraploid mosaicism in a six-year-old male.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 567, doi. 10.1111/j.1399-0004.1985.tb00429.x
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Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and 'Cat eye' phenotypical features.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 509, doi. 10.1111/j.1399-0004.1985.tb00418.x
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- Article
Åland eye disease: no albino misrouting.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 526, doi. 10.1111/j.1399-0004.1985.tb00421.x
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Detection and interpretation of two different cell lines in triploid abortions.
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- Clinical Genetics, 1985, v. 28, n. 6, p. 489, doi. 10.1111/j.1399-0004.1985.tb00415.x
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- Article