| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect
|
Thiselton, Dawn L.
|
|
2001
|
109 |
5 |
p. 498-502
|
article
|
| 2 |
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
|
Grigelioniene, Giedre
|
|
2001
|
109 |
5 |
p. 551-558
|
article
|
| 3 |
A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon
|
Sakamoto, Osamu
|
|
2001
|
109 |
5 |
p. 559-563
|
article
|
| 4 |
Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population
|
Kokaze, Akatsuki
|
|
2001
|
109 |
5 |
p. 521-525
|
article
|
| 5 |
Correcting for multiple testing in genetic association studies: the legend lives on
|
Krawczak, Michael
|
|
2001
|
109 |
5 |
p. 566-567
|
article
|
| 6 |
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene
|
Han, Song
|
|
2001
|
109 |
5 |
p. 487-497
|
article
|
| 7 |
Genetic case-control association studies – correcting for multiple testing
|
Nyholt, Dale R.
|
|
2001
|
109 |
5 |
p. 564-565
|
article
|
| 8 |
Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome
|
Dörr, Sylvia
|
|
2001
|
109 |
5 |
p. 479-486
|
article
|
| 9 |
Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution
|
Hammarsund, Marianne
|
|
2001
|
109 |
5 |
p. 542-550
|
article
|
| 10 |
Insulator: from chromatin domain boundary to gene regulation
|
Zhan, Hui-Chun
|
|
2001
|
109 |
5 |
p. 471-478
|
article
|
| 11 |
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
|
Beesley, Clare E.
|
|
2001
|
109 |
5 |
p. 503-511
|
article
|
| 12 |
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
|
Liburd, Nikki
|
|
2001
|
109 |
5 |
p. 535-541
|
article
|
| 13 |
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
|
Yang, Xue
|
|
2001
|
109 |
5 |
p. 526-534
|
article
|
| 14 |
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene
|
Urbán, Zsolt
|
|
2001
|
109 |
5 |
p. 512-520
|
article
|
Journal description