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53 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease	Attle, Tanla		1994	3	8	p. 1439-1440	article
2	A calcium channel mutation causing hypokalemic periodic paralysis	Jurkat-Rott, Karln		1994	3	8	p. 1415-1419	article
3	Addition of functional human telomeres to YACs	Taylor, Stephen S.		1994	3	8	p. 1383-1386	article
4	A (GA)n repeat polymorphism in the human protamine 2 (PRM 2) gene	Schnūlle, V.		1994	3	8	p. 1445-1445	article
5	Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome	Reik, Wolf		1994	3	8	p. 1297-1301	article
6	Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy	Hewitt, Jane E.		1994	3	8	p. 1287-1295	article
7	An A to G polymorphism in the SHBG gene	Xu, Yongsheng		1994	3	8	p. 1443-1443	article
8	Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb	Buxton, Jessica L.		1994	3	8	p. 1409-1413	article
9	A novel mutation in the von Hippel — Lindau gene	B.Loeb, Deborah		1994	3	8	p. 1423-1424	article
10	A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin	Cheadle, Jeremy P.		1994	3	8	p. 1431-1432	article
11	A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal	lida, Taku		1994	3	8	p. 1437-1438	article
12	A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA	Tomatsu, Shunji		1994	3	8	p. 1427-1428	article
13	An Rsa\ polymorphism for the fibrillin gene (FBN1)	BIack, C.M.		1994	3	8	p. 1442-1442	article
14	Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines	J.Blake, Julian N.Schofield, Derek		1994	3	8	p. 1309-1316	article
15	Are CpG sites mutation hot spots in the dystrophin gene?	Akalin, Nur		1994	3	8	p. 1425-1426	article
16	Author index			1994	3	8	p. 1447-1447	article
17	Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene	Peyrard, Myriam		1994	3	8	p. 1393-1399	article
18	Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line	Murata, Yasushi		1994	3	8	p. 1341-1344	article
19	Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke	Pallanck, Leo		1994	3	8	p. 1239-1243	article
20	Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness	M.Reld, Fiona		1994	3	8	p. 1435-1436	article
21	Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping	Delfau-Larue, Marie-Hélène		1994	3	8	p. 1325-1330	article
22	Ddel polymorphism in the AGTR1 gene	Doria, A.		1994	3	8	p. 1444-1444	article
23	Dinucleotide repeat polymorphism at the CHRND locus	Landa, B.L.		1994	3	8	p. 1445-1445	article
24	Dinucleotide repeat polymorphism at the DXS1684 locus	Gong, W.		1994	3	8	p. 1442-1442	article
25	Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci	Velasco, E.		1994	3	8	p. 1441-1441	article
26	Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2	Bokhoven, H.van		1994	3	8	p. 1446-1446	article
27	Dissecting the centromere of the human Y chromosome with cloned telomeric DNA	Brown, K.E.		1994	3	8	p. 1227-1237	article
28	Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21	Ikeno, Masashi		1994	3	8	p. 1245-1257	article
29	Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference	Rappold, Gudrun A.		1994	3	8	p. 1337-1340	article
30	Early embryonic failure associated with uniparental disomy for human chromosome 21	Henderson, Deborah J.		1994	3	8	p. 1373-1376	article
31	Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1	Marinoni, Jean-Christophe		1994	3	8	p. 1355-1357	article
32	Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa	Souied, Eric		1994	3	8	p. 1433-1434	article
33	Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping	Sheffield, Val C.		1994	3	8	p. 1331-1335	article
34	Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p	Knowles, James A.		1994	3	8	p. 1401-1403	article
35	Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa	Antiolo, Guillermo		1994	3	8	p. 1421-1421	article
36	Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype	A.Crossey, Paul		1994	3	8	p. 1303-1308	article
37	Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22	G.Puffenberger, Erik		1994	3	8	p. 1217-1225	article
38	Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture	Futreal, P.Andrew		1994	3	8	p. 1359-1364	article
39	Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1	Gedde-Dahl, Tobias Jr		1994	3	8	p. 1387-1391	article
40	Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity	Hentati, A.		1994	3	8	p. 1263-1267	article
41	Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2	S.P.Rose, Charlotte		1994	3	8	p. 1405-1408	article
42	Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6	Swaroop, Anand		1994	3	8	p. 1281-1286	article
43	Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome	Lemmink, Henny H.		1994	3	8	p. 1269-1273	article
44	Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus	Wenkert, David		1994	3	8	p. 1429-1430	article
45	Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly	W.Scherer, Stephen		1994	3	8	p. 1345-1354	article
46	Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization	Senger, Gabriele		1994	3	8	p. 1275-1280	article
47	Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities	Lightfoot, Therese		1994	3	8	p. 1377-1381	article
48	Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s	Zedenlus, Jan		1994	3	8	p. 1259-1262	article
49	SSCP at the HTR1DA locus	Kasapi, M.		1994	3	8	p. 1444-1444	article
50	The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons	Sargent, Carole A.		1994	3	8	p. 1317-1324	article
51	The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination	MacDonald, M.		1994	3	8	p. 1365-1371	article
52	Two dinucleotide repeat polymorphisms at 17p13	Stack, M.		1994	3	8	p. 1443-1443	article
53	What's in a spot?	Houseal, Timothy W.		1994	3	8	p. 1215-1216	article

53 results found

Koninklijke Bibliotheek - National Library of the Netherlands