nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
|
Colombo, Roberto |
|
2000 |
107 |
6 |
p. 559-567 |
artikel |
2 |
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
|
Colombo, Roberto |
|
2000 |
107 |
6 |
p. 559-567 |
artikel |
3 |
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
|
Colombo, Roberto |
|
|
107 |
6 |
p. 559-567 |
artikel |
4 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L. |
|
2000 |
107 |
6 |
p. 612-614 |
artikel |
5 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L. |
|
2000 |
107 |
6 |
p. 612-614 |
artikel |
6 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L. |
|
|
107 |
6 |
p. 612-614 |
artikel |
7 |
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma
|
Winchester, Elizabeth |
|
2000 |
107 |
6 |
p. 591-596 |
artikel |
8 |
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma
|
Winchester, Elizabeth C. |
|
2000 |
107 |
6 |
p. 591-596 |
artikel |
9 |
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma
|
Winchester, Elizabeth C. |
|
|
107 |
6 |
p. 591-596 |
artikel |
10 |
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene
|
Lee, Laura |
|
2000 |
107 |
6 |
p. 577-581 |
artikel |
11 |
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene
|
Lee, Laura |
|
2000 |
107 |
6 |
p. 577-581 |
artikel |
12 |
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene
|
Lee, Laura |
|
|
107 |
6 |
p. 577-581 |
artikel |
13 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George |
|
2000 |
107 |
6 |
p. 623-629 |
artikel |
14 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George S. |
|
2000 |
107 |
6 |
p. 623-629 |
artikel |
15 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George S. |
|
|
107 |
6 |
p. 623-629 |
artikel |
16 |
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
|
Helmken, Claudia |
|
2000 |
107 |
6 |
p. 554-558 |
artikel |
17 |
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
|
Helmken, Claudia |
|
2000 |
107 |
6 |
p. 554-558 |
artikel |
18 |
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
|
Helmken, Claudia |
|
|
107 |
6 |
p. 554-558 |
artikel |
19 |
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
|
Chakarova, Christina |
|
2000 |
107 |
6 |
p. 597-611 |
artikel |
20 |
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
|
Chakarova, Christina |
|
2000 |
107 |
6 |
p. 597-611 |
artikel |
21 |
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
|
Chakarova, Christina |
|
|
107 |
6 |
p. 597-611 |
artikel |
22 |
High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews
|
Nebel, Almut |
|
2000 |
107 |
6 |
p. 630-641 |
artikel |
23 |
High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews
|
Nebel, Almut |
|
2000 |
107 |
6 |
p. 630-641 |
artikel |
24 |
High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews
|
Nebel, Almut |
|
|
107 |
6 |
p. 630-641 |
artikel |
25 |
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
|
Yasuda, Tomotsugu |
|
2000 |
107 |
6 |
p. 537-545 |
artikel |
26 |
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
|
Yasuda, Tomotsugu |
|
2000 |
107 |
6 |
p. 537-545 |
artikel |
27 |
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
|
Yasuda, Tomotsugu |
|
|
107 |
6 |
p. 537-545 |
artikel |
28 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne |
|
2000 |
107 |
6 |
p. 546-553 |
artikel |
29 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne |
|
2000 |
107 |
6 |
p. 546-553 |
artikel |
30 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne |
|
|
107 |
6 |
p. 546-553 |
artikel |
31 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra |
|
2000 |
107 |
6 |
p. 568-576 |
artikel |
32 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra |
|
2000 |
107 |
6 |
p. 568-576 |
artikel |
33 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra |
|
|
107 |
6 |
p. 568-576 |
artikel |
34 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J. |
|
2000 |
107 |
6 |
p. 615-622 |
artikel |
35 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J. |
|
2000 |
107 |
6 |
p. 615-622 |
artikel |
36 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J. |
|
|
107 |
6 |
p. 615-622 |
artikel |
37 |
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination
|
Lim, Han N. |
|
2000 |
107 |
6 |
p. 650-652 |
artikel |
38 |
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination
|
Lim, Han N. |
|
|
107 |
6 |
p. 650-652 |
artikel |
39 |
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
|
Pennarun, Gaëlle |
|
2000 |
107 |
6 |
p. 642-649 |
artikel |
40 |
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
|
Pennarun, Gaëlle |
|
2000 |
107 |
6 |
p. 642-649 |
artikel |
41 |
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
|
Pennarun, Gaëlle |
|
|
107 |
6 |
p. 642-649 |
artikel |
42 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing |
|
2000 |
107 |
6 |
p. 582-590 |
artikel |
43 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing |
|
2000 |
107 |
6 |
p. 582-590 |
artikel |
44 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing |
|
|
107 |
6 |
p. 582-590 |
artikel |