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36 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A de novo frame-shift mutation in the tuberin gene	Kumar, A.		1995	4	8	p. 1471-1472	article
2	A gene for Leber's congenital amaurosis maps to chromosome 17p	Camuzat, Agnès		1995	4	8	p. 1447-1452	article
3	A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease	Rafi, Mohammad A.		1995	4	8	p. 1285-1289	article
4	Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs	Wirth, B.		1995	4	8	p. 1273-1284	article
5	An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q	Bardienb, Soraya		1995	4	8	p. 1459-1462	article
6	An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4	Yulug, Isik G.		1995	4	8	p. 1474-1474	article
7	A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia	Laue, Louisa		1995	4	8	p. 1429-1433	article
8	A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family	Turco, Alberto E.		1995	4	8	p. 1331-1335	article
9	A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14	Geisen, Caroline		1995	4	8	p. 1337-1345	article
10	Author index			1995	4	8	p. 1473-1474	article
11	Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity	Parmentier, Laurent		1995	4	8	p. 1391-1395	article
12	A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin	Hansen, Lars		1995	4	8	p. 1313-1320	article
13	A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3	Clark, Robert F.		1995	4	8	p. 1347-1354	article
14	Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene	Savoia, Anna		1995	4	8	p. 1321-1326	article
15	Comparison of the positional cloning methods used to isolate the BRCA1 gene	Harshman, Keith		1995	4	8	p. 1259-1266	article
16	Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome	Gorry, Michael C.		1995	4	8	p. 1387-1390	article
17	Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease	Attié, Tania		1995	4	8	p. 1381-1386	article
18	Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice	Phelps, Stephanie F.		1995	4	8	p. 1251-1258	article
19	Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy	Wells, Dominic J.		1995	4	8	p. 1245-1250	article
20	Expression of the Huntington's disease (IT15) protein product in HD patients	Schilling, Gabrlele		1995	4	8	p. 1365-1371	article
21	Friedreich's ataxia: a defect in signal transduction?	Carvajal, Jaime J.		1995	4	8	p. 1411-1419	article
22	Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3	Bitner-Glindzicz, Maria		1995	4	8	p. 1467-1469	article
23	Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3	Cruts, Marc		1995	4	8	p. 1355-1364	article
24	Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members	van Ree, Janine H.		1995	4	8	p. 1403-1409	article
25	Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries	Lee, Cheng Chi		1995	4	8	p. 1373-1380	article
26	Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)	Héon, Elise		1995	4	8	p. 1435-1439	article
27	Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1	Holmberg, Monica		1995	4	8	p. 1441-1445	article
28	Localization of 102 exons to a 2.5 Mb region involved in Down syndrome	Lucente, D.		1995	4	8	p. 1305-1311	article
29	Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker	Sarfarazi, Mansoor		1995	4	8	p. 1453-1458	article
30	Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene	Tiranti, Valeria		1995	4	8	p. 1421-1427	article
31	Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries	Yaspo, Marie-Laure		1995	4	8	p. 1291-1304	article
32	Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM	May, Melanie		1995	4	8	p. 1465-1466	article
33	Myotonia levior is a chloride channel disorder	Lehmann-Horn, Frank		1995	4	8	p. 1397-1402	article
34	On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1	Hoffmeyer, Sven		1995	4	8	p. 1267-1272	article
35	Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene	Varon, Raymonda		1995	4	8	p. 1463-1464	article
36	Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome	Rötig, Agnès		1995	4	8	p. 1327-1330	article

36 results found

Koninklijke Bibliotheek - National Library of the Netherlands
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