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                             50 gevonden resultaten
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
                             50 gevonden resultaten
 
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