| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation
|
Hule, M.L.
|
|
1994
|
3 |
12 |
p. 2231-2236
|
artikel
|
| 2 |
Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
|
Miniou, Pierre
|
|
1994
|
3 |
12 |
p. 2093-2102
|
artikel
|
| 3 |
Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients
|
Lazar, Vladimir
|
|
1994
|
3 |
12 |
p. 2257-2260
|
artikel
|
| 4 |
A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors
|
Gutiérrez, Marina I.
|
|
1994
|
3 |
12 |
p. 2247-2248
|
artikel
|
| 5 |
Adhalin gene polymorphism
|
Allamand, V.
|
|
1994
|
3 |
12 |
p. 2269-2269
|
artikel
|
| 6 |
A dinucleotide repeat polymorphism in the MYBPH gene
|
Watkins, H.
|
|
1994
|
3 |
12 |
p. 2267-2267
|
artikel
|
| 7 |
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
|
Chaib, Hassan
|
|
1994
|
3 |
12 |
p. 2219-2222
|
artikel
|
| 8 |
A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration site
|
van der Drift, Pauline
|
|
1994
|
3 |
12 |
p. 2131-2136
|
artikel
|
| 9 |
AnEcoRI RFLP in human phenol sulfotransferase genes
|
Henkel, R. D.
|
|
1994
|
3 |
12 |
p. 2264-2264
|
artikel
|
| 10 |
A polymorphic dinucleotide repeat at the human HLA-F locus
|
Fullan, A.
|
|
1994
|
3 |
12 |
p. 2266-2266
|
artikel
|
| 11 |
A polymorphic dinucleotide repeat in the second intron of HUMCLC
|
Curran, M.
|
|
1994
|
3 |
12 |
p. 2264-2264
|
artikel
|
| 12 |
Author index
|
|
|
1994
|
3 |
12 |
p. 2271-2271
|
artikel
|
| 13 |
Author Index
|
|
|
1994
|
3 |
12 |
p. 2281-2281
|
artikel
|
| 14 |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene
|
Kostrzewa, Markus
|
|
1994
|
3 |
12 |
p. 2261-2262
|
artikel
|
| 15 |
A YAC clone map spanning 7.5 megabases of human chromosome band Xq28
|
Rogner, Ute C.
|
|
1994
|
3 |
12 |
p. 2137-2146
|
artikel
|
| 16 |
Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon
|
Peltola, Minna
|
|
1994
|
3 |
12 |
p. 2237-2242
|
artikel
|
| 17 |
Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition
|
Selelstad, Mark T.
|
|
1994
|
3 |
12 |
p. 2159-2161
|
artikel
|
| 18 |
DGGE polymorphism in intron 10 of MSH2, the HNPCC gene
|
Wijnen, J.
|
|
1994
|
3 |
12 |
p. 2268-2268
|
artikel
|
| 19 |
Dinucleotide repeat polymorphism adjacent to CDKN2
|
Herbst, R. A.
|
|
1994
|
3 |
12 |
p. 2265-2265
|
artikel
|
| 20 |
Dinucleotide repeat polymorphism at the human biglycan (BGN) locus
|
Just, W.
|
|
1994
|
3 |
12 |
p. 2268-2268
|
artikel
|
| 21 |
Dinucleotide repeat polymorphism at the human TYRP1 locus
|
Box, N.F.
|
|
1994
|
3 |
12 |
p. 2270-2270
|
artikel
|
| 22 |
Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13
|
Mochizuki, H.
|
|
1994
|
3 |
12 |
p. 2265-2265
|
artikel
|
| 23 |
Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)
|
Gregor, P.
|
|
1994
|
3 |
12 |
p. 2263-2263
|
artikel
|
| 24 |
Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia
|
Berg, Lutz-Peter
|
|
1994
|
3 |
12 |
p. 2147-2152
|
artikel
|
| 25 |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
|
Mulligan, Lois M.
|
|
1994
|
3 |
12 |
p. 2163-2168
|
artikel
|
| 26 |
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
|
Squitieri, F.
|
|
1994
|
3 |
12 |
p. 2103-2114
|
artikel
|
| 27 |
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor
|
Rees, Mark I.
|
|
1994
|
3 |
12 |
p. 2175-2179
|
artikel
|
| 28 |
Genetic heterogeneity in familial malignant melanoma
|
MacGeoch, Catriona
|
|
1994
|
3 |
12 |
p. 2195-2200
|
artikel
|
| 29 |
Hinfl polymorphism detected by FAEES3 cDNA
|
Bora, P.S.
|
|
1994
|
3 |
12 |
p. 2267-2267
|
artikel
|
| 30 |
Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity
|
Nöthen, Markus M.
|
|
1994
|
3 |
12 |
p. 2207-2212
|
artikel
|
| 31 |
Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels
|
Folz, Rodney J.
|
|
1994
|
3 |
12 |
p. 2251-2254
|
artikel
|
| 32 |
Identification of a polymorphism in exon 11 of the RET proto-oncogene
|
Bugalho, M.J.M.
|
|
1994
|
3 |
12 |
p. 2263-2263
|
artikel
|
| 33 |
Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population
|
Teng, Hul
|
|
1994
|
3 |
12 |
p. 2249-2250
|
artikel
|
| 34 |
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations
|
Yamada, Yasukazu
|
|
1994
|
3 |
12 |
p. 2243-2245
|
artikel
|
| 35 |
Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3
|
Jones, Christopher
|
|
1994
|
3 |
12 |
p. 2123-2130
|
artikel
|
| 36 |
REPORTS
|
Robin, Nathaniel H.
|
|
1994
|
3 |
12 |
p. 2153-2158
|
artikel
|
| 37 |
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix
|
Forlino, A.
|
|
1994
|
3 |
12 |
p. 2201-2206
|
artikel
|
| 38 |
Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma
|
Foster, Keith
|
|
1994
|
3 |
12 |
p. 2169-2173
|
artikel
|
| 39 |
Spectrum of small length germline mutations in the RB1 gene
|
Lohmann, Dletmar R.
|
|
1994
|
3 |
12 |
p. 2187-2193
|
artikel
|
| 40 |
Subject Index
|
|
|
1994
|
3 |
12 |
p. 2273-2273
|
artikel
|
| 41 |
Taql polymorphism of the human MXI1 gene
|
Bova, G. S.
|
|
1994
|
3 |
12 |
p. 2266-2266
|
artikel
|
| 42 |
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
|
Ritchie, Rachael J.
|
|
1994
|
3 |
12 |
p. 2115-2121
|
artikel
|
| 43 |
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
|
Hermans, Monique M.P.
|
|
1994
|
3 |
12 |
p. 2213-2218
|
artikel
|
| 44 |
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia
|
Phillips, Michael S.
|
|
1994
|
3 |
12 |
p. 2181-2186
|
artikel
|
| 45 |
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment
|
Paunlo, Tllna
|
|
1994
|
3 |
12 |
p. 2223-2229
|
artikel
|
| 46 |
Tri- and tetranucleotide repeat polymorphism in the LIPA gene
|
Aslanidis, C.
|
|
1994
|
3 |
12 |
p. 2269-2269
|
artikel
|
| 47 |
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
|
Fransen, Erik
|
|
1994
|
3 |
12 |
p. 2255-2256
|
artikel
|
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