| 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
|
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