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22 results found

no	title	author	magazine	year	volume	issue	page(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	article
2	Alström syndrome: further evidence for linkage to human chromosome 2p13	Collin, G.B.		1999	105	5	p. 474-479	article
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	article
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	article
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	article
6	Complex patterns of intragenic polymorphism at the PDGFA locus	Bonthron, D.T.		1999	105	5	p. 452-459	article
7	Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization	Gogusev, J.		1999	105	5	p. 444-451	article
8	Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2–13.1	Zhang, B.		1999	105	5	p. 418-423	article
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	article
10	Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q	Cody, J.D.		1999	105	5	p. 424-427	article
11	Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA	Lehtonen, M.S.		1999	105	5	p. 513-514	article
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	article
13	Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region	Thomas, N.S.		1999	105	5	p. 384-387	article
14	Mapping of a gene for May-Hegglin anomaly to chromosome 22q	Kunishima, S.		1999	105	5	p. 379-383	article
15	Missense mutations in hMLH1 associated with colorectal cancer	Liu, T.		1999	105	5	p. 437-441	article
16	Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation	Mallolas, J.		1999	105	5	p. 468-473	article
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	article
18	SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients	Yin, L.		1999	105	5	p. 501-505	article
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	article
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	article
21	Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia	Matsson, H.		1999	105	5	p. 496-500	article
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	article

22 results found

Koninklijke Bibliotheek - National Library of the Netherlands