Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 3
Results: 17
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 208, doi. 10.1111/j.1399-0004.2004.00277.x
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- Publication type:
- Article
Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 183, doi. 10.1111/j.0009-9163.2004.00282.x
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- Publication type:
- Article
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 214, doi. 10.1111/j.1399-0004.2004.00285.x
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- Publication type:
- Article
TP63 mutation and clefting modifier genes in an EEC syndrome family.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 217, doi. 10.1111/j.1399-0004.2004.00287.x
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- Publication type:
- Article
Cholesteryl ester transfer protein promoter single-nucleotide polymorphisms in Sp1-binding sites affect transcription and are associated with high-density lipoprotein cholesterol.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 223, doi. 10.1111/j.1399-0004.2004.00289.x
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- Publication type:
- Article
Neonatal salt-wasting and 11 β-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)– CYP11B1 (11 β-hydroxylase).
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 229, doi. 10.1111/j.1399-0004.2004.00291.x
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- Publication type:
- Article
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 236, doi. 10.1111/j.1399-0004.2004.00292.x
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- Publication type:
- Article
Genetic analysis of lethal congenital malformations causing perinatal mortality at Nizwa Hospital, Oman.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 239, doi. 10.1111/j.1399-0004.2004.00293.x
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- Publication type:
- Article
Melding mind and matter in gene expression studies of the human brain.
- Published in:
- 2004
- Publication type:
- Other
Risk of placental abruption in first-degree relatives of index patients.
- Published in:
- 2004
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- Publication type:
- Letter
A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation.
- Published in:
- 2004
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- Publication type:
- Letter
New insights in congenital bowing of the femora.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 169, doi. 10.1111/j.0009-9163.2004.00307.x
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- Publication type:
- Article
Putting mind over matter: rethinking current strategies for unmasking the genetics of mental illness.
- Published in:
- 2004
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- Publication type:
- Other
Scanning the genetic contributors of schizophrenia and bipolar disorder.
- Published in:
- 2004
- Publication type:
- Other
Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 3, p. 189, doi. 10.1111/j.0009-9163.2004.00297.x
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- Publication type:
- Article
Simplifying the complex genetics of schizophrenia.
- Published in:
- 2004
- Publication type:
- Other
Corrigendum.
- Published in:
- 2004
- Publication type:
- Correction Notice