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66 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia	Ma, Yuanhong		1993	2	7	p. 1049-1050	article
2	A CA dinucleotide polymorphism at D17S107 (17q12–q24)	Barker, David F.		1993	2	7	p. 1086-1086	article
3	A compound nucleotide repeat in the neurofibro-matosis (NF1) gene	Andersen, Lone B.		1993	2	7	p. 1083-1083	article
4	A dinucleotide deletion (–ΔGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual	S.Oetting, William		1993	2	7	p. 1047-1048	article
5	A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q	Watkins, H.C.		1993	2	7	p. 1084-1084	article
6	A microsatellite-based index map of human chromosome 11	Litt, M.		1993	2	7	p. 909-913	article
7	A microsatellite polymorphism at the THRB locus	Brett, Peter M.		1993	2	7	p. 1083-1083	article
8	A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene	Marchetti, G.		1993	2	7	p. 1055-1056	article
9	An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle	H.Gutmann, David		1993	2	7	p. 989-992	article
10	An 8-bp deletion in exon B of the iduronate-2-sulphatase gene in a case of Hunter disease	Goldenfum, Sandra		1993	2	7	p. 1063-1065	article
11	An EcoRI polymorphism in the AML1 gene	Birn, Debbi J.		1993	2	7	p. 1084-1084	article
12	A new disease-causing mutation in the GAP-related domain of the NF1 gene	Anglani, F.		1993	2	7	p. 1057-1059	article
13	A new mutation of exon 5 of the P53 gene in breast cancer	Carrere, N.		1993	2	7	p. 1075-1075	article
14	An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome	Lobaccaro, Jean-Marc		1993	2	7	p. 1041-1043	article
15	A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia	Guldberg, Per		1993	2	7	p. 1061-1062	article
16	A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene	Cheadle, Jeremy P.		1993	2	7	p. 1067-1068	article
17	A physical map of the C6 and C7 complement component gene region on chromosome 5p13	Hobart, M.J.		1993	2	7	p. 1035-1036	article
18	A Pstl polymorphism in the 3′ end of the human type IV collagen alpha 3 chain (COL4A3) gene	Delbridge, M.L.		1993	2	7	p. 1086-1086	article
19	A Taql site identifies the *A allele at the ACP1 locus	Sensabaugh, G.F.		1993	2	7	p. 1079-1079	article
20	A transcription map of the region containing the Huntington disease gene	Rommens, J.M.		1993	2	7	p. 901-907	article
21	Author index			1993	2	7	p. 1095-1096	article
22	Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7	Olson, Timothy M.		1993	2	7	p. 869-873	article
23	Banl and Pvull polymorphisms in intron 2 of selection E (SELE)	Powers, Patricia K.		1993	2	7	p. 1082-1082	article
24	Characterization of a human α1-antitrypsin null allele involving aberrant mRNA splicing	E.Laubach, Victor		1993	2	7	p. 1001-1005	article
25	Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity	Labelle, Yves		1993	2	7	p. 941-946	article
26	Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient	Greger, Valerie		1993	2	7	p. 921-924	article
27	Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4	Zuo, Jlan		1993	2	7	p. 889-899	article
28	Dinucleotide repeat polymorphism at the D11S982E locus	Xiao, Hong		1993	2	7	p. 1081-1081	article
29	Dinucleotide repeat polymorphism at the D6S348 locus	Kansara, M.S.		1993	2	7	p. 1085-1085	article
30	Dinucleotide repeat polymorphism at the DXS1146 locus	Hong, Hee-Kyung		1993	2	7	p. 1078-1078	article
31	Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p	Dollfus, H.		1993	2	7	p. 1081-1081	article
32	Dinucleotide repeat polymorphism at the locus D13S231	Saksova, Ludmila		1993	2	7	p. 1082-1082	article
33	Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci	Tagle, Danilo A.		1993	2	7	p. 1077-1077	article
34	Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35	Pasterls, N.German		1993	2	7	p. 953-959	article
35	Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect	Sudbrak, R.		1993	2	7	p. 857-862	article
36	Exclusion of the involvement of all known Retinitis Pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)	Kumar-Singh, Rajendra		1993	2	7	p. 875-878	article
37	Functional complementation in mouse — human radiation hybrids assigns the putative murine scid gene to the pericentric region of human chromosome 8	Komatsu, Kenshi		1993	2	7	p. 1031-1034	article
38	Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility	lles, David E.		1993	2	7	p. 863-868	article
39	Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome	Pereira, Lygia		1993	2	7	p. 961-968	article
40	Haplotype analysis to determine the position of a mutation among closely linked DNA markers	Ramsay, Michele		1993	2	7	p. 1007-1014	article
41	Human Bg/ll/Bc/l RFLP recognized by 3' region of human MAP 2 gene probe	Ding, Yuan		1993	2	7	p. 1080-1080	article
42	Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene	Nakahashi, Yoshitsugu		1993	2	7	p. 1069-1070	article
43	Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis	Paul, Philip		1993	2	7	p. 925-931	article
44	Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing	Blanquet, Véronique		1993	2	7	p. 975-979	article
45	Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8	Chevalier-Porst, F.		1993	2	7	p. 1071-1072	article
46	Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene	D.Briggs, Michael		1993	2	7	p. 1087-1087	article
47	Malignant hyperthermia hots up!	Johnson, Keith		1993	2	7	p. 849-849	article
48	Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST	Lepplg, Kathleen A.		1993	2	7	p. 883-887	article
49	Mapping the Von Hippel — Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis	Richards, Frances M.		1993	2	7	p. 879-882	article
50	Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers	Morral, Núria		1993	2	7	p. 1015-1022	article
51	Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements	Upadhyaya, M.		1993	2	7	p. 981-987	article
52	Molecular definition of the extreme size polymorphism in apolipoprotein(a)	Lackner, Carolin		1993	2	7	p. 933-940	article
53	Mutation analysis in patients with the typical form of Anderson — Fabry disease	Davies, Joanna P.		1993	2	7	p. 1051-1053	article
54	Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC	Donis-Keller, Helen		1993	2	7	p. 851-856	article
55	New human DNA polymorphisms submitted to the genome data base			1993	2	7	p. 1089-1093	article
56	Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7	Yokotani, Noboru		1993	2	7	p. 1037-1039	article
57	Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23	M.McConville, Carmel		1993	2	7	p. 969-974	article
58	PAX6 mutations in aniridia	M.Hanson, Isabel		1993	2	7	p. 915-920	article
59	Positional cloning uncovers a new old oncogene	Frischauf, Anna-Maria		1993	2	7	p. 847-848	article
60	Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients	Johnston, Janet		1993	2	7	p. 1045-1046	article
61	Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12–q22	Flejter, Wendy L.		1993	2	7	p. 1080-1080	article
62	Tetranucleotide repeat polymorphism at the D8S344 locus	Ward, Kenneth		1993	2	7	p. 1087-1087	article
63	The detection of a VNTR at the Huntington disease genetic marker D4S10	Cariock, Leon		1993	2	7	p. 1079-1079	article
64	The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions	Wapenaar, Martin C.		1993	2	7	p. 947-952	article
65	The state of DNA methylation in the promoter and exon 1 regions of the human gene for the interleukin-2 receptor α chain (IL-2Rα) in various cell types	Behn-Krappa, Annett		1993	2	7	p. 993-999	article
66	Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus	Byth, Barbara C.		1993	2	7	p. 1085-1085	article

66 results found

Koninklijke Bibliotheek - National Library of the Netherlands