nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region
|
Malyarchuk, Boris A. |
|
2002 |
111 |
1 |
p. 46-53 |
artikel |
2 |
Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region
|
Malyarchuk, Boris A. |
|
2002 |
111 |
1 |
p. 46-53 |
artikel |
3 |
A new locus for coeliac disease mapped to chromosome 15 in a population isolate
|
Woolley, Niina |
|
2002 |
111 |
1 |
p. 40-45 |
artikel |
4 |
A new locus for coeliac disease mapped to chromosome 15 in a population isolate
|
Woolley, Niina |
|
2002 |
111 |
1 |
p. 40-45 |
artikel |
5 |
Centromeric association of chromosome 16- and 18-derived microchromosomes
|
Felbor, Ute |
|
2002 |
111 |
1 |
p. 16-25 |
artikel |
6 |
Centromeric association of chromosome 16- and 18-derived microchromosomes
|
Felbor, Ute |
|
2002 |
111 |
1 |
p. 16-25 |
artikel |
7 |
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15
|
Su, Li-Kuo |
|
2002 |
111 |
1 |
p. 88-95 |
artikel |
8 |
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15
|
Su, Li-Kuo |
|
2002 |
111 |
1 |
p. 88-95 |
artikel |
9 |
DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding
|
Rowntree, Rebecca |
|
2002 |
111 |
1 |
p. 66-74 |
artikel |
10 |
DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding
|
Rowntree, Rebecca |
|
2002 |
111 |
1 |
p. 66-74 |
artikel |
11 |
Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
|
Leegwater, P. |
|
2002 |
111 |
1 |
p. 114 |
artikel |
12 |
Human Chromosomes, fourth edition
|
Vogel, Walther |
|
2002 |
111 |
1 |
p. 112 |
artikel |
13 |
Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties
|
Soria, José |
|
2002 |
111 |
1 |
p. 59-65 |
artikel |
14 |
Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties
|
Soria, José |
|
2002 |
111 |
1 |
p. 59-65 |
artikel |
15 |
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
|
Leegwater, P. |
|
2002 |
111 |
1 |
p. 114 |
artikel |
16 |
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
|
Friedl, Waltraut |
|
2002 |
111 |
1 |
p. 108-111 |
artikel |
17 |
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
|
Friedl, Waltraut |
|
2002 |
111 |
1 |
p. 108-111 |
artikel |
18 |
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001
|
Fryns, J.-P. |
|
2002 |
111 |
1 |
p. 113 |
artikel |
19 |
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001
|
Fryns, J.-P. |
|
2002 |
111 |
1 |
p. 113 |
artikel |
20 |
Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients
|
Chen, Ying-Hwa |
|
2002 |
111 |
1 |
p. 1-8 |
artikel |
21 |
Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients
|
Chen, Ying-Hwa |
|
2002 |
111 |
1 |
p. 1-8 |
artikel |
22 |
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
|
Ouyang, Xiao |
|
2002 |
111 |
1 |
p. 26-30 |
artikel |
23 |
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
|
Ouyang, Xiao |
|
2002 |
111 |
1 |
p. 26-30 |
artikel |
24 |
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations
|
Angius, Andrea |
|
2002 |
111 |
1 |
p. 9-15 |
artikel |
25 |
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations
|
Angius, Andrea |
|
2002 |
111 |
1 |
p. 9-15 |
artikel |
26 |
Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection
|
Grimaldi, Rogério |
|
2002 |
111 |
1 |
p. 102-104 |
artikel |
27 |
Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection
|
Grimaldi, Rogério |
|
2002 |
111 |
1 |
p. 102-104 |
artikel |
28 |
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample
|
Fullerton, Stephanie M. |
|
2002 |
111 |
1 |
p. 75-87 |
artikel |
29 |
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample
|
Fullerton, Stephanie M. |
|
2002 |
111 |
1 |
p. 75-87 |
artikel |
30 |
SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations
|
Nath, Swapan K. |
|
2002 |
111 |
1 |
p. 54-58 |
artikel |
31 |
SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations
|
Nath, Swapan K. |
|
2002 |
111 |
1 |
p. 54-58 |
artikel |
32 |
SNP identification, haplotype analysis, and parental origin of mutations in TSC2
|
Roberts, Penelope S. |
|
2002 |
111 |
1 |
p. 96-101 |
artikel |
33 |
SNP identification, haplotype analysis, and parental origin of mutations in TSC2
|
Roberts, Penelope S. |
|
2002 |
111 |
1 |
p. 96-101 |
artikel |
34 |
Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay
|
Popp, Susanne |
|
2002 |
111 |
1 |
p. 31-39 |
artikel |
35 |
Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay
|
Popp, Susanne |
|
2002 |
111 |
1 |
p. 31-39 |
artikel |
36 |
The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
|
Cerrato, Flavia |
|
2002 |
111 |
1 |
p. 105-107 |
artikel |
37 |
The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
|
Cerrato, Flavia |
|
2002 |
111 |
1 |
p. 105-107 |
artikel |