The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 700, doi. 10.1038/sj.ejhg.5201004
- By:
- Publication type:
- Article
Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 9
Results: 17
1
2
Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 693, doi. 10.1038/sj.ejhg.5201016
- By:
- Publication type:
- Article
3
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 652, doi. 10.1038/sj.ejhg.5201017
- By:
- Publication type:
- Article
4
Genealogy and genes: tracing the founding fathers of Tristan da Cunha.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 705, doi. 10.1038/sj.ejhg.5201022
- By:
- Publication type:
- Article
5
Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 659, doi. 10.1038/sj.ejhg.5201023
- By:
- Publication type:
- Article
6
Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 671, doi. 10.1038/sj.ejhg.5201024
- By:
- Publication type:
- Article
7
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 639, doi. 10.1038/sj.ejhg.5201025
- By:
- Publication type:
- Article
8
Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 665, doi. 10.1038/sj.ejhg.5201026
- By:
- Publication type:
- Article
9
Novel spastin mutations and their expression analysis in two Italian families.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 710, doi. 10.1038/sj.ejhg.5201027
- By:
- Publication type:
- Article
10
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 643, doi. 10.1038/sj.ejhg.5201028
- By:
- Publication type:
- Article
11
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201029
- By:
- Publication type:
- Article
12
Comment on “The Impact of genotyping error on haplotype reconstruction and frequency estimation”.
- Published in:
- 2003
- By:
- Publication type:
- Letter
13
Reply to letter from T Becker and M Knapp.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 638, doi. 10.1038/sj.ejhg.5201031
- By:
- Publication type:
- Article
14
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 723, doi. 10.1038/sj.ejhg.5201032
- By:
- Publication type:
- Article
15
Association between Gly241Arg ICAM-1 gene polymorphism and serum sICAM-1 concentration in the Stanislas cohort.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 679, doi. 10.1038/sj.ejhg.5201033
- By:
- Publication type:
- Article
16
Mutation analysis of the Smad3 gene in human osteoarthritis.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 714, doi. 10.1038/sj.ejhg.5201034
- By:
- Publication type:
- Article
17
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 687, doi. 10.1038/sj.ejhg.5201035
- By:
- Publication type:
- Article