Works matching IS 00099163 AND DT 1993 AND VI 44 AND IP 1
Results: 15
Craniofacial anthropometric studies in Waardenburg syndrome type I.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 20, doi. 10.1111/j.1399-0004.1993.tb03836.x
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- Article
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 53, doi. 10.1111/j.1399-0004.1993.tb03845.x
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Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13).
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- Clinical Genetics, 1993, v. 44, n. 1, p. 46, doi. 10.1111/j.1399-0004.1993.tb03841.x
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Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 12, doi. 10.1111/j.1399-0004.1993.tb03834.x
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Announcement.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 56, doi. 10.1111/j.1399-0004.1993.tb03846.x
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- Article
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 1, doi. 10.1111/j.1399-0004.1993.tb03832.x
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Malignant lymphoma in a Bloom's syndrome patient treated with insulin.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 51, doi. 10.1111/j.1399-0004.1993.tb03844.x
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A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 44, doi. 10.1111/j.1399-0004.1993.tb03840.x
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- Article
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 15, doi. 10.1111/j.1399-0004.1993.tb03835.x
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Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 26, doi. 10.1111/j.1399-0004.1993.tb03837.x
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Proposed: an international code of ethics for medical genetics.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 37, doi. 10.1111/j.1399-0004.1993.tb03839.x
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Phenotypic intrafamilial heterogeneity in cystic fibrosis.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 48, doi. 10.1111/j.1399-0004.1993.tb03842.x
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The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 50, doi. 10.1111/j.1399-0004.1993.tb03843.x
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Prenatal diagnosis of congenital sialidosis.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 8, doi. 10.1111/j.1399-0004.1993.tb03833.x
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A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984.
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- Clinical Genetics, 1993, v. 44, n. 1, p. 32, doi. 10.1111/j.1399-0004.1993.tb03838.x
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- Article