| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients
|
Soares, Sérgio
|
|
2001
|
108 |
6 |
p. 499-503
|
artikel
|
| 2 |
Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients
|
Soares, Sérgio
|
|
2001
|
108 |
6 |
p. 499-503
|
artikel
|
| 3 |
A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease
|
Borgato, Lorena
|
|
2001
|
108 |
6 |
p. 504-510
|
artikel
|
| 4 |
A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease
|
Borgato, Lorena
|
|
2001
|
108 |
6 |
p. 504-510
|
artikel
|
| 5 |
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man
|
Kashiwagi, Hirokazu
|
|
2001
|
108 |
6 |
p. 459-466
|
artikel
|
| 6 |
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man
|
Kashiwagi, Hirokazu
|
|
2001
|
108 |
6 |
p. 459-466
|
artikel
|
| 7 |
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
|
Bell, R.
|
|
2001
|
108 |
6 |
p. 546-551
|
artikel
|
| 8 |
Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene
|
Bell, R.
|
|
2001
|
108 |
6 |
p. 546-551
|
artikel
|
| 9 |
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells
|
Ellis, Nathan A.
|
|
2001
|
108 |
6 |
p. 554
|
artikel
|
| 10 |
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
|
Iwai, Kuni
|
|
2001
|
108 |
6 |
p. 445-449
|
artikel
|
| 11 |
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
|
Iwai, Kuni
|
|
2001
|
108 |
6 |
p. 445-449
|
artikel
|
| 12 |
Erratum to Back mutation can produce phenotype reversion in Bloom syndrome somatic cells
|
Ellis, Nathan A.
|
|
2001
|
108 |
6 |
p. 554
|
artikel
|
| 13 |
Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR
|
Weinhäusel, Andreas
|
|
2001
|
108 |
6 |
p. 450-458
|
artikel
|
| 14 |
Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR
|
Weinhäusel, Andreas
|
|
2001
|
108 |
6 |
p. 450-458
|
artikel
|
| 15 |
Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania
|
Devlin, B.
|
|
2001
|
108 |
6 |
p. 521-528
|
artikel
|
| 16 |
Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania
|
Devlin, B.
|
|
2001
|
108 |
6 |
p. 521-528
|
artikel
|
| 17 |
Improved definition of chromosomal breakpoints using high-resolution multicolour banding
|
Lemke, Johannes
|
|
2001
|
108 |
6 |
p. 478-483
|
artikel
|
| 18 |
Improved definition of chromosomal breakpoints using high-resolution multicolour banding
|
Lemke, Johannes
|
|
2001
|
108 |
6 |
p. 478-483
|
artikel
|
| 19 |
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population
|
Akey, Joshua M.
|
|
2001
|
108 |
6 |
p. 516-520
|
artikel
|
| 20 |
Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population
|
Akey, Joshua M.
|
|
2001
|
108 |
6 |
p. 516-520
|
artikel
|
| 21 |
Nigel M. Hooper (editor): Alzheimer’s disease. Methods and protocols
|
Cowburn, Richard F.
|
|
2001
|
108 |
6 |
p. 556
|
artikel
|
| 22 |
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
|
Rio, Marlène
|
|
2001
|
108 |
6 |
p. 511-515
|
artikel
|
| 23 |
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
|
Rio, Marlène
|
|
2001
|
108 |
6 |
p. 511-515
|
artikel
|
| 24 |
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region
|
Braybrook, Claire
|
|
2001
|
108 |
6 |
p. 537-545
|
artikel
|
| 25 |
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region
|
Braybrook, Claire
|
|
2001
|
108 |
6 |
p. 537-545
|
artikel
|
| 26 |
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
|
Georgiou, Ioannis
|
|
2001
|
108 |
6 |
p. 494-498
|
artikel
|
| 27 |
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
|
Georgiou, Ioannis
|
|
2001
|
108 |
6 |
p. 494-498
|
artikel
|
| 28 |
Proteomics - from protein sequence to function
|
Dailey, Harry A.
|
|
2001
|
108 |
6 |
p. 555
|
artikel
|
| 29 |
Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes
|
Clark, Vanessa J.
|
|
2001
|
108 |
6 |
p. 484-493
|
artikel
|
| 30 |
Statistical estimation and pedigree analysis ofCCR2-CCR5 haplotypes
|
Clark, Vanessa J.
|
|
2001
|
108 |
6 |
p. 484-493
|
artikel
|
| 31 |
The genes for the human VPS10 domain-containing receptors are large and contain many small exons
|
Hampe, Wolfgang
|
|
2001
|
108 |
6 |
p. 529-536
|
artikel
|
| 32 |
The genes for the human VPS10 domain-containing receptors are large and contain many small exons
|
Hampe, Wolfgang
|
|
2001
|
108 |
6 |
p. 529-536
|
artikel
|
| 33 |
The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p
|
Piccini, I.
|
|
2001
|
108 |
6 |
p. 467-477
|
artikel
|
| 34 |
The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p
|
Piccini, I.
|
|
2001
|
108 |
6 |
p. 467-477
|
artikel
|
| 35 |
The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease
|
Theuns, Jessie
|
|
2001
|
108 |
6 |
p. 552-553
|
artikel
|
| 36 |
TheTNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease
|
Theuns, Jessie
|
|
2001
|
108 |
6 |
p. 552-553
|
artikel
|
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