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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
 
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