nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia
|
Rack, K. A. |
|
1994 |
3 |
7 |
p. 1053-1059 |
artikel |
2 |
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
|
Huie, M. L. |
|
1994 |
3 |
7 |
p. 1081-1087 |
artikel |
3 |
Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains
|
Huynh, Duong P. |
|
1994 |
3 |
7 |
p. 1075-1079 |
artikel |
4 |
An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene
|
F.Schorderet, Daniel |
|
1994 |
3 |
7 |
p. 1201-1201 |
artikel |
5 |
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells
|
Hull, Jeremy |
|
1994 |
3 |
7 |
p. 1141-1146 |
artikel |
6 |
Analysis of the mouse and rat CFTR promoter regions
|
Denamur, Erick |
|
1994 |
3 |
7 |
p. 1089-1094 |
artikel |
7 |
A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease
|
Kishida, Takeshi |
|
1994 |
3 |
7 |
p. 1191-1192 |
artikel |
8 |
A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis
|
Tajima, Toshihiro |
|
1994 |
3 |
7 |
p. 1187-1189 |
artikel |
9 |
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex
|
Yamanishi, Kiyofumi |
|
1994 |
3 |
7 |
p. 1171-1172 |
artikel |
10 |
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
|
Lafrenière, Ronald G. |
|
1994 |
3 |
7 |
p. 1133-1139 |
artikel |
11 |
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration
|
Nakazawa, Mitsuru |
|
1994 |
3 |
7 |
p. 1195-1196 |
artikel |
12 |
A trinucleotide repeat polymorphism in XT00444 (D13S635E)
|
Yandava, C.N. |
|
1994 |
3 |
7 |
p. 1209-1209 |
artikel |
13 |
Author index
|
|
|
1994 |
3 |
7 |
p. 1213-1213 |
artikel |
14 |
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22
|
Wapenaar, Martin C. |
|
1994 |
3 |
7 |
p. 1155-1161 |
artikel |
15 |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1
|
Purandare, Smita M. |
|
1994 |
3 |
7 |
p. 1109-1115 |
artikel |
16 |
Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene
|
Ainsworth, Peter |
|
1994 |
3 |
7 |
p. 1179-1181 |
artikel |
17 |
Cloning and characterization of the human choroideremia gene
|
Bokhoven, Hans van |
|
1994 |
3 |
7 |
p. 1041-1046 |
artikel |
18 |
CORRIGENDUM
|
Hassett, C. |
|
1994 |
3 |
7 |
p. 1214-1214 |
artikel |
19 |
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis
|
Hiort, Olaf |
|
1994 |
3 |
7 |
p. 1163-1166 |
artikel |
20 |
Dinucleotide repeat polymorphism at D1S556
|
Weston, M.D. |
|
1994 |
3 |
7 |
p. 1211-1211 |
artikel |
21 |
Dinucleotide repeat polymorphism at the D6S510 locus
|
Gandon, G. |
|
1994 |
3 |
7 |
p. 1210-1210 |
artikel |
22 |
Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41
|
Weston, M.D. |
|
1994 |
3 |
7 |
p. 1212-1212 |
artikel |
23 |
Dinucleotide repeat polymorphism in the TGFB2 gene
|
Weston, M.D. |
|
1994 |
3 |
7 |
p. 1211-1211 |
artikel |
24 |
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
|
Rosslter, Judith Pratt |
|
1994 |
3 |
7 |
p. 1035-1039 |
artikel |
25 |
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system
|
Franchis, Raffaella de |
|
1994 |
3 |
7 |
p. 1103-1108 |
artikel |
26 |
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
|
W.Prior, Thomas |
|
1994 |
3 |
7 |
p. 1173-1174 |
artikel |
27 |
Identification of a novel germline mutation in a FAP family
|
Gebert, Johannes F. |
|
1994 |
3 |
7 |
p. 1167-1168 |
artikel |
28 |
Identification of the L927P and ΔL1260 mutations in the CFTR gene
|
Hermans, Caroline J. |
|
1994 |
3 |
7 |
p. 1199-1200 |
artikel |
29 |
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae
|
Tribioli, C. |
|
1994 |
3 |
7 |
p. 1061-1067 |
artikel |
30 |
Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q
|
Ikeda, Shigaku |
|
1994 |
3 |
7 |
p. 1147-1150 |
artikel |
31 |
Maternal anticipation of DRPLA
|
Aoki, Masashi |
|
1994 |
3 |
7 |
p. 1197-1198 |
artikel |
32 |
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors
|
Pedone, Paolo V. |
|
1994 |
3 |
7 |
p. 1117-1121 |
artikel |
33 |
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
|
Bokhoven, Hans van |
|
1994 |
3 |
7 |
p. 1047-1051 |
artikel |
34 |
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P
|
Uchiyama, Atsushi |
|
1994 |
3 |
7 |
p. 1183-1184 |
artikel |
35 |
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
|
Tassabehjl, M. |
|
1994 |
3 |
7 |
p. 1069-1074 |
artikel |
36 |
Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome
|
Mazzarella, Richard |
|
1994 |
3 |
7 |
p. 1095-1101 |
artikel |
37 |
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
|
Novelletto, Andrea |
|
1994 |
3 |
7 |
p. 1129-1132 |
artikel |
38 |
Polymorphism in exon M7 of the PTHR gene
|
Schipani, E. |
|
1994 |
3 |
7 |
p. 1210-1210 |
artikel |
39 |
Polymorphism in the GALNS gene
|
Tomatsu, S. |
|
1994 |
3 |
7 |
p. 1208-1208 |
artikel |
40 |
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
|
Heine, Ronald |
|
1994 |
3 |
7 |
p. 1123-1128 |
artikel |
41 |
Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene
|
Naito, Etsuo |
|
1994 |
3 |
7 |
p. 1193-1194 |
artikel |
42 |
Tetranucleotide repeat polymorphism at the D8S639 locus
|
Nelson, L. |
|
1994 |
3 |
7 |
p. 1209-1209 |
artikel |
43 |
Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100
|
Carison, K.M. |
|
1994 |
3 |
7 |
p. 1207-1207 |
artikel |
44 |
Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene
|
Blanquet, Véronique |
|
1994 |
3 |
7 |
p. 1185-1186 |
artikel |
45 |
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa
|
Fuchs, S. |
|
1994 |
3 |
7 |
p. 1203-1203 |
artikel |
46 |
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→ Pro)
|
Bernardi, F. |
|
1994 |
3 |
7 |
p. 1175-1177 |
artikel |
47 |
Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor
|
Baldazzl, L. |
|
1994 |
3 |
7 |
p. 1169-1170 |
artikel |
48 |
Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency
|
Soria, José Manuel |
|
1994 |
3 |
7 |
p. 1205-1206 |
artikel |
49 |
Xhol and Sphl RFLPs in the GALNS gene
|
Tomatsu, S. |
|
1994 |
3 |
7 |
p. 1208-1208 |
artikel |
50 |
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions
|
Huber, Irene |
|
1994 |
3 |
7 |
p. 1151-1154 |
artikel |