| no |
title |
author |
magazine |
year |
volume |
issue |
page(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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 4 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L.
|
|
2000
|
107 |
6 |
p. 612-614
|
article
|
| 5 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L.
|
|
2000
|
107 |
6 |
p. 612-614
|
article
|
| 6 |
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
|
Christiansen, L.
|
|
|
107 |
6 |
p. 612-614
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 13 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George
|
|
2000
|
107 |
6 |
p. 623-629
|
article
|
| 14 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George S.
|
|
2000
|
107 |
6 |
p. 623-629
|
article
|
| 15 |
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
|
Charames, George S.
|
|
|
107 |
6 |
p. 623-629
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 28 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne
|
|
2000
|
107 |
6 |
p. 546-553
|
article
|
| 29 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne
|
|
2000
|
107 |
6 |
p. 546-553
|
article
|
| 30 |
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
|
Romstad, Anne
|
|
|
107 |
6 |
p. 546-553
|
article
|
| 31 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra
|
|
2000
|
107 |
6 |
p. 568-576
|
article
|
| 32 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra
|
|
2000
|
107 |
6 |
p. 568-576
|
article
|
| 33 |
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
|
Tessitore, Alessandra
|
|
|
107 |
6 |
p. 568-576
|
article
|
| 34 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J.
|
|
2000
|
107 |
6 |
p. 615-622
|
article
|
| 35 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J.
|
|
2000
|
107 |
6 |
p. 615-622
|
article
|
| 36 |
Multilocus genetic analysis of single interphase cells by spectral imaging
|
Fung, J.
|
|
|
107 |
6 |
p. 615-622
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 42 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing
|
|
2000
|
107 |
6 |
p. 582-590
|
article
|
| 43 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing
|
|
2000
|
107 |
6 |
p. 582-590
|
article
|
| 44 |
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
|
Su, Bing
|
|
|
107 |
6 |
p. 582-590
|
article
|
Journal description