Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 3
Results: 21
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 283, doi. 10.1038/sj.ejhg.5201267
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- Article
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 309, doi. 10.1038/sj.ejhg.5201268
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- Article
CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
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- Article
Evolutionary Genetics: Genetics of lactase persistence-fresh lessons in the history of milk drinking.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 267, doi. 10.1038/sj.ejhg.5201297
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- Article
Mutations including the promoter region of myocilin/TIGR gene.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 384, doi. 10.1038/sj.ejhg.5201299
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- Article
Haplotype structure of the beta adrenergic receptor genes in US Caucasians and African Americans.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 341, doi. 10.1038/sj.ejhg.5201313
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- Article
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 292, doi. 10.1038/sj.ejhg.5201314
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- Article
A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 352, doi. 10.1038/sj.ejhg.5201333
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- Article
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 314, doi. 10.1038/sj.ejhg.5201323
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- Article
FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 321, doi. 10.1038/sj.ejhg.5201324
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- Article
Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 370, doi. 10.1038/sj.ejhg.5201328
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- Article
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 330, doi. 10.1038/sj.ejhg.5201332
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- Article
Y chromosome evidence for a founder effect in Ashkenazi Jews.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 388, doi. 10.1038/sj.ejhg.5201319
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- Publication type:
- Article
Quantification of allele-specific G-proteinß3 subunit mRNA transcripts in different human cells and tissues by Pyrosequencing.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 361, doi. 10.1038/sj.ejhg.5201334
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- Article
Possible role of USP26 in patients with severely impaired spermatogenesis.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 336, doi. 10.1038/sj.ejhg.5201335
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- Article
Information and informed consent in a longitudinal screening involving children: a questionnaire survey.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 376, doi. 10.1038/sj.ejhg.5201336
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- Article
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 273, doi. 10.1038/sj.ejhg.5201337
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- Article
Margareta Mikkelsen, 4 November 1923-28 June 2004.
- Published in:
- 2005
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- Publication type:
- Obituary
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 278, doi. 10.1038/sj.ejhg.5201342
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- Article
Genomics: The human genome, revisited.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 265, doi. 10.1038/sj.ejhg.5201348
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- Article
Statistical Genetics: Usual suspects in complex disease.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 269, doi. 10.1038/sj.ejhg.5201354
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- Article