Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 3
Results: 14
Monosomy 21q: two cases of del(21q) and review of the literature.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 140, doi. 10.1111/j.1399-0004.1995.tb04074.x
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Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 151, doi. 10.1111/j.1399-0004.1995.tb04076.x
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A Taql and a BamHI polymorphism in the COL4A4 gene on chromosome 2q35-37.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 162, doi. 10.1111/j.1399-0004.1995.tb04079.x
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Molecular cytogenetic studies of duplication 9q32→q34.3 inserted into 9q13.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 148, doi. 10.1111/j.1399-0004.1995.tb04075.x
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Retinitis pigmentosa in Spain.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 120, doi. 10.1111/j.1399-0004.1995.tb04069.x
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Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?
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- Clinical Genetics, 1995, v. 48, n. 3, p. 160, doi. 10.1111/j.1399-0004.1995.tb04078.x
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On the nosology of the 'primary true microcephaly, chorioretinal dysplasia, lymphoedema' association.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 131, doi. 10.1111/j.1399-0004.1995.tb04072.x
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Lack of association of apolipoprotein E polymorphism with plasma Lp(a) levels in the Chinese.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 113, doi. 10.1111/j.1399-0004.1995.tb04068.x
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A case of Alström syndrome associated with diabetes insipidus.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 164, doi. 10.1111/j.1399-0004.1995.tb04080.x
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A novel insertional mutation of a single base in exon 12 of the dystrophin gene.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 128, doi. 10.1111/j.1399-0004.1995.tb04071.x
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A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 123, doi. 10.1111/j.1399-0004.1995.tb04070.x
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Clinical phenotype associated with terminal 2q37 deletion.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 134, doi. 10.1111/j.1399-0004.1995.tb04073.x
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Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 156, doi. 10.1111/j.1399-0004.1995.tb04077.x
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Sister chromatid exchange in Prader-Willi syndrome families.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 167, doi. 10.1111/j.1399-0004.1995.tb04081.x
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- Article