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43 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea	Nichols, B.E.		1993	2	5	p. 601-603	article
2	A complex dinucleotide repeat polymorphism in the human Na+K+ATPass alpha subunit (ATP1A2) gene	Lim, Lionel C.C.		1993	2	5	p. 616-616	article
3	A dinucleotide repeat polymorphism in the gene for the γ subunit of the human Fcε receptors (FLER16)	Brini, Anna T.		1993	2	5	p. 619-619	article
4	A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene	Tupler, R.		1993	2	5	p. 620-620	article
5	Allele-specific MVR-PCR analysis at minisatellite D1S8	Monckton, Darren G.		1993	2	5	p. 513-519	article
6	An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient	Boye, E.		1993	2	5	p. 595-596	article
7	A new probe detecting HLA-8 gene polymorphism	Alizadeh, M.		1993	2	5	p. 617-617	article
8	A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR	Ichii, Shigetoshi		1993	2	5	p. 597-597	article
9	Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site	Tinsley, Jonathon M.		1993	2	5	p. 521-524	article
10	A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria	Goltsov, Alexei A.		1993	2	5	p. 577-581	article
11	Author index			1993	2	5	p. 631-631	article
12	Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes	Lengauer, Christoph		1993	2	5	p. 505-512	article
13	Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes	Fernie, B.A.		1993	2	5	p. 591-592	article
14	Deletions in the prion protein gene are not associated with CJD	Palmer, Mark S.		1993	2	5	p. 541-544	article
15	Dinculeotide repeat polymorphism in the HOX4E locus	Rosen, D.R.		1993	2	5	p. 617-617	article
16	Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4	Overbeck, Larry D.		1993	2	5	p. 611-611	article
17	Dinucleotide repeat polymorphism at D21S49 (21 q22.3)	Bespalova, I.N.		1993	2	5	p. 613-613	article
18	Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene	Goto, J.		1993	2	5	p. 616-616	article
19	Dinucleotide repeat polymorphism at the DXS1111 locus	Browne, D.L.		1993	2	5	p. 611-611	article
20	Dinucleotide repeat polymorphism at the DXS556 locus	Thiselton, D.L.		1993	2	5	p. 613-613	article
21	Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13	McDonald, M.T.		1993	2	5	p. 619-619	article
22	Dinucleotide repeat polymorphism at Xq26.1 (DXS1114)	Weber, C.		1993	2	5	p. 612-612	article
23	Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)	Weber, C.		1993	2	5	p. 612-612	article
24	Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)	Carrozzo, Romeo		1993	2	5	p. 615-615	article
25	Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach	Fairweather, Nicholas		1993	2	5	p. 607-608	article
26	Five novel factor IX mutations in unrelated hemophilia B families	Chen, Shi-Han		1993	2	5	p. 599-600	article
27	Five sequence tagged sites for human chromosome band 11 q23	Perry, H.		1993	2	5	p. 614-614	article
28	Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome	Soussi-Yanicostas, Nadia		1993	2	5	p. 563-569	article
29	Frequencies of human keratin 10 alleles	Mischke, Dietmar		1993	2	5	p. 618-618	article
30	Genomic organization of exons 22 to 25 of the dystrophin gene	Bebchuk, Karen G.		1993	2	5	p. 593-594	article
31	In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease	Bernardi, F.		1993	2	5	p. 545-548	article
32	Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22	Lamour, Valérie		1993	2	5	p. 535-540	article
33	Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F	Gasparini, Paolo		1993	2	5	p. 571-576	article
34	Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted	Weksberg, R.		1993	2	5	p. 549-556	article
35	New human DNA polymorphisms submitted to the genome data base			1993	2	5	p. 621-629	article
36	Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription	Suomalainen, Anu		1993	2	5	p. 525-534	article
37	Rapid detection of the hypertension-associated Met235→ Thr allele of the human angiotensinogen gene	Russ, Andreas P.		1993	2	5	p. 609-610	article
38	Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations	Wedell, Anna		1993	2	5	p. 499-504	article
39	Tetranucleotide repeat polymorphism at the D8S307 locus	Ward, Kenneth		1993	2	5	p. 615-615	article
40	The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene	Willard, Huntington F.		1993	2	5	p. 497-498	article
41	Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199)	Graw, Sharon L.		1993	2	5	p. 614-614	article
42	Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene	Perry, D.J.		1993	2	5	p. 618-618	article
43	X-linked liver glycogenosis: localization and isolation of a candidate gene	Hendrickx, Jan		1993	2	5	p. 583-589	article

43 results found

Koninklijke Bibliotheek - National Library of the Netherlands
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