Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 1
Results: 13
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 86, doi. 10.1038/sj.ejhg.5200761
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- Article
Relation between tumour necrosis factor polymorphism TNFα-308 and risk of asthma.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 82, doi. 10.1038/sj.ejhg.5200746
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- Article
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200745
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- Article
A large deletion including most of GjB6 in recessive non syndromic deafness: a digenic effect?
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 72, doi. 10.1038/sj.ejhg.5200762
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- Article
A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 62, doi. 10.1038/sj.ejhg.5200766
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- Article
The transcriptional map of the common elimiated region 1 (C3CER1) in 3p21.3.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 52, doi. 10.1038/sj.ejhg.5200758
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- Article
Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 44, doi. 10.1038/sj.ejhg.5200757
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- Article
Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI).
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 36, doi. 10.1038/sj.ejhg.5200739
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- Article
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 26, doi. 10.1038/sj.ejhg.5200760
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- Article
Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 17, doi. 10.1038/sj.ejhg.5200750
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- Article
DNA methylation, imptinting and cancer.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 6, doi. 10.1038/sj.ejhg.5200768
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- Article
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90[suprsk2], RSK2, ISPK, MAPKAP1).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200738
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- Article
EDITORIAL.
- Published in:
- 2002
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- Publication type:
- Editorial