Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 3
Results: 21
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 210, doi. 10.1111/j.1399-0004.1998.tb02679.x
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- Article
Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 214, doi. 10.1111/j.1399-0004.1998.tb02680.x
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Serum lipids and apolipoprotein E phenotypes in identical twins reared apart.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 191, doi. 10.1111/j.1399-0004.1998.tb02675.x
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Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 184, doi. 10.1111/j.1399-0004.1998.tb02674.x
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- Article
Holoprosencephaly: from Homer to Hedgehog.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 155, doi. 10.1111/j.1399-0004.1998.tb02666.x
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- Article
Deletion of chromosome 3q proximal region gives rise to a variable phenotype.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 220, doi. 10.1111/j.1399-0004.1998.tb02681.x
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Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-technique.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 231, doi. 10.1111/j.1399-0004.1998.tb02686.x
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Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 202, doi. 10.1111/j.1399-0004.1998.tb02677.x
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The new face of an old villain - cholesterol.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 172, doi. 10.1111/j.1399-0004.1998.tb02670.x
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- Article
A novel point mutation associated with alkaptonuria.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 228, doi. 10.1111/j.1399-0004.1998.tb02684.x
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Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 165, doi. 10.1111/j.1399-0004.1998.tb02668.x
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Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 176, doi. 10.1111/j.1399-0004.1998.tb02672.x
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Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 230, doi. 10.1111/j.1399-0004.1998.tb02685.x
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Normal growth in Angelman syndrome due to paternal UPD.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 223, doi. 10.1111/j.1399-0004.1998.tb02682.x
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- Article
A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 205, doi. 10.1111/j.1399-0004.1998.tb02678.x
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Duchenne mouse knocked out by two blows.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 171, doi. 10.1111/j.1399-0004.1998.tb02669.x
- Publication type:
- Article
Developmental Biology: Frontiers for Clinical Genetics.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 164, doi. 10.1111/j.1399-0004.1998.tb02667.x
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- Article
DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 179, doi. 10.1111/j.1399-0004.1998.tb02673.x
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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 200, doi. 10.1111/j.1399-0004.1998.tb02676.x
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- Article
A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 226, doi. 10.1111/j.1399-0004.1998.tb02683.x
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Defects in the human homolog of Drosophila diaphanous in non-syndromic deafness.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 174, doi. 10.1111/j.1399-0004.1998.tb02671.x
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- Article