Works matching IS 00099163 AND DT 1994 AND VI 46 AND IP 4
Results: 14
Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 291, doi. 10.1111/j.1399-0004.1994.tb04162.x
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Associations of genotypes at the apolipoprotein AI-CIII-AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 273, doi. 10.1111/j.1399-0004.1994.tb04159.x
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X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 295, doi. 10.1111/j.1399-0004.1994.tb04163.x
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Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 299, doi. 10.1111/j.1399-0004.1994.tb04164.x
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Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 313, doi. 10.1111/j.1399-0004.1994.tb04167.x
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Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 324, doi. 10.1111/j.1399-0004.1994.tb04171.x
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The KBG syndrome: follow-up data on three affected brothers.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 283, doi. 10.1111/j.1399-0004.1994.tb04160.x
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Molecular and clinical analyses of cystic fibrosis in the South of Spain.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 287, doi. 10.1111/j.1399-0004.1994.tb04161.x
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Oligodontia, short stature and small head circumference with normal intelligence.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 316, doi. 10.1111/j.1399-0004.1994.tb04168.x
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A Rsal RFLP at the human myelin protein zero ( MPZ) locus.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 327, doi. 10.1111/j.1399-0004.1994.tb04172.x
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HLA-A, B and DR antigens in patients with gonadal dysgenesis.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 309, doi. 10.1111/j.1399-0004.1994.tb04166.x
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Down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association?
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- Clinical Genetics, 1994, v. 46, n. 4, p. 322, doi. 10.1111/j.1399-0004.1994.tb04170.x
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Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).
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- Clinical Genetics, 1994, v. 46, n. 4, p. 304, doi. 10.1111/j.1399-0004.1994.tb04165.x
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Marfan and cri du chat syndromes in an 18-month-old child: evidence of phenotype interaction.
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- Clinical Genetics, 1994, v. 46, n. 4, p. 319, doi. 10.1111/j.1399-0004.1994.tb04169.x
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- Article