| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo frame-shift mutation in the tuberin gene
|
Kumar, A.
|
|
1995
|
4 |
8 |
p. 1471-1472
|
artikel
|
| 2 |
A gene for Leber's congenital amaurosis maps to chromosome 17p
|
Camuzat, Agnès
|
|
1995
|
4 |
8 |
p. 1447-1452
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 5 |
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
|
Bardienb, Soraya
|
|
1995
|
4 |
8 |
p. 1459-1462
|
artikel
|
| 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
|
artikel
|
| 7 |
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
|
Laue, Louisa
|
|
1995
|
4 |
8 |
p. 1429-1433
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 10 |
Author index
|
|
|
1995
|
4 |
8 |
p. 1473-1474
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 14 |
Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene
|
Savoia, Anna
|
|
1995
|
4 |
8 |
p. 1321-1326
|
artikel
|
| 15 |
Comparison of the positional cloning methods used to isolate the BRCA1 gene
|
Harshman, Keith
|
|
1995
|
4 |
8 |
p. 1259-1266
|
artikel
|
| 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
|
artikel
|
| 17 |
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
|
Attié, Tania
|
|
1995
|
4 |
8 |
p. 1381-1386
|
artikel
|
| 18 |
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
|
Phelps, Stephanie F.
|
|
1995
|
4 |
8 |
p. 1251-1258
|
artikel
|
| 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
|
artikel
|
| 20 |
Expression of the Huntington's disease (IT15) protein product in HD patients
|
Schilling, Gabrlele
|
|
1995
|
4 |
8 |
p. 1365-1371
|
artikel
|
| 21 |
Friedreich's ataxia: a defect in signal transduction?
|
Carvajal, Jaime J.
|
|
1995
|
4 |
8 |
p. 1411-1419
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 25 |
Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries
|
Lee, Cheng Chi
|
|
1995
|
4 |
8 |
p. 1373-1380
|
artikel
|
| 26 |
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
|
Héon, Elise
|
|
1995
|
4 |
8 |
p. 1435-1439
|
artikel
|
| 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
|
artikel
|
| 28 |
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome
|
Lucente, D.
|
|
1995
|
4 |
8 |
p. 1305-1311
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 33 |
Myotonia levior is a chloride channel disorder
|
Lehmann-Horn, Frank
|
|
1995
|
4 |
8 |
p. 1397-1402
|
artikel
|
| 34 |
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1
|
Hoffmeyer, Sven
|
|
1995
|
4 |
8 |
p. 1267-1272
|
artikel
|
| 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
|
artikel
|
| 36 |
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
|
Rötig, Agnès
|
|
1995
|
4 |
8 |
p. 1327-1330
|
artikel
|
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