| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
|
Bourdon, Violaine
|
|
2000
|
108 |
1 |
p. 43-50
|
article
|
| 2 |
AFLP fingerprinting of the human genome
|
Prochazka, Michal
|
|
2000
|
108 |
1 |
p. 59-65
|
article
|
| 3 |
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
|
Chao, Hung-Kun
|
|
2000
|
108 |
1 |
p. 14-19
|
article
|
| 4 |
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
|
Bassi, M.
|
|
2000
|
108 |
1 |
p. 51-54
|
article
|
| 5 |
Human type I hair keratin pseudogene ϕhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence
|
Winter, Hermelita
|
|
2000
|
108 |
1 |
p. 37-42
|
article
|
| 6 |
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
|
Tyson, Jessica
|
|
2000
|
108 |
1 |
p. 75
|
article
|
| 7 |
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
|
Santer, René
|
|
2000
|
108 |
1 |
p. 66-71
|
article
|
| 8 |
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism
|
Seixas, Susana
|
|
2000
|
108 |
1 |
p. 20-30
|
article
|
| 9 |
The Frequency of Inherited Disorders Database
|
Al-Jader, Layla
|
|
2000
|
108 |
1 |
p. 72-74
|
article
|
| 10 |
The human olfactory subgenome: from sequence to structure and evolution
|
Fuchs, Tania
|
|
2001
|
108 |
1 |
p. 1-13
|
article
|
| 11 |
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility
|
Quintana-Murci, L.
|
|
2000
|
108 |
1 |
p. 55-58
|
article
|
| 12 |
Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations
|
de Villena, Fernando
|
|
2000
|
108 |
1 |
p. 31-36
|
article
|
Journal description