| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of the Δccr5 mutation in indigenous populations of the Brazilian Amazon
|
Leboute, A.P.M.
|
|
1999
|
105 |
5 |
p. 442-443
|
artikel
|
| 2 |
Alström syndrome: further evidence for linkage to human chromosome 2p13
|
Collin, G.B.
|
|
1999
|
105 |
5 |
p. 474-479
|
artikel
|
| 3 |
Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization
|
Honda, H.
|
|
1999
|
105 |
5 |
p. 428-436
|
artikel
|
| 4 |
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y
|
Chen, H.
|
|
1999
|
105 |
5 |
p. 399-409
|
artikel
|
| 5 |
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase
|
Noack, D.
|
|
1999
|
105 |
5 |
p. 460-467
|
artikel
|
| 6 |
Complex patterns of intragenic polymorphism at the PDGFA locus
|
Bonthron, D.T.
|
|
1999
|
105 |
5 |
p. 452-459
|
artikel
|
| 7 |
Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization
|
Gogusev, J.
|
|
1999
|
105 |
5 |
p. 444-451
|
artikel
|
| 8 |
Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2–13.1
|
Zhang, B.
|
|
1999
|
105 |
5 |
p. 418-423
|
artikel
|
| 9 |
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration
|
Michalík, A.
|
|
1999
|
105 |
5 |
p. 410-417
|
artikel
|
| 10 |
Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q
|
Cody, J.D.
|
|
1999
|
105 |
5 |
p. 424-427
|
artikel
|
| 11 |
Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA
|
Lehtonen, M.S.
|
|
1999
|
105 |
5 |
p. 513-514
|
artikel
|
| 12 |
Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein
|
Patzak, D.
|
|
1999
|
105 |
5 |
p. 506-512
|
artikel
|
| 13 |
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
|
Thomas, N.S.
|
|
1999
|
105 |
5 |
p. 384-387
|
artikel
|
| 14 |
Mapping of a gene for May-Hegglin anomaly to chromosome 22q
|
Kunishima, S.
|
|
1999
|
105 |
5 |
p. 379-383
|
artikel
|
| 15 |
Missense mutations in hMLH1 associated with colorectal cancer
|
Liu, T.
|
|
1999
|
105 |
5 |
p. 437-441
|
artikel
|
| 16 |
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
|
Mallolas, J.
|
|
1999
|
105 |
5 |
p. 468-473
|
artikel
|
| 17 |
Preimplantation diagnosis of the β1 integrin knockout mutation as a model for aneuploid gene testing
|
Kim, H.-S.
|
|
1999
|
105 |
5 |
p. 480-488
|
artikel
|
| 18 |
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
|
Yin, L.
|
|
1999
|
105 |
5 |
p. 501-505
|
artikel
|
| 19 |
Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)
|
Roessler, E.
|
|
1999
|
105 |
5 |
p. 489-495
|
artikel
|
| 20 |
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
|
Spirio, L.
|
|
1999
|
105 |
5 |
p. 388-398
|
artikel
|
| 21 |
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
|
Matsson, H.
|
|
1999
|
105 |
5 |
p. 496-500
|
artikel
|
| 22 |
Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene
|
Lin, B.
|
|
1999
|
105 |
5 |
p. 515-517
|
artikel
|
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