| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia
|
Ma, Yuanhong
|
|
1993
|
2 |
7 |
p. 1049-1050
|
artikel
|
| 2 |
A CA dinucleotide polymorphism at D17S107 (17q12–q24)
|
Barker, David F.
|
|
1993
|
2 |
7 |
p. 1086-1086
|
artikel
|
| 3 |
A compound nucleotide repeat in the neurofibro-matosis (NF1) gene
|
Andersen, Lone B.
|
|
1993
|
2 |
7 |
p. 1083-1083
|
artikel
|
| 4 |
A dinucleotide deletion (–ΔGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual
|
S.Oetting, William
|
|
1993
|
2 |
7 |
p. 1047-1048
|
artikel
|
| 5 |
A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q
|
Watkins, H.C.
|
|
1993
|
2 |
7 |
p. 1084-1084
|
artikel
|
| 6 |
A microsatellite-based index map of human chromosome 11
|
Litt, M.
|
|
1993
|
2 |
7 |
p. 909-913
|
artikel
|
| 7 |
A microsatellite polymorphism at the THRB locus
|
Brett, Peter M.
|
|
1993
|
2 |
7 |
p. 1083-1083
|
artikel
|
| 8 |
A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene
|
Marchetti, G.
|
|
1993
|
2 |
7 |
p. 1055-1056
|
artikel
|
| 9 |
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle
|
H.Gutmann, David
|
|
1993
|
2 |
7 |
p. 989-992
|
artikel
|
| 10 |
An 8-bp deletion in exon B of the iduronate-2-sulphatase gene in a case of Hunter disease
|
Goldenfum, Sandra
|
|
1993
|
2 |
7 |
p. 1063-1065
|
artikel
|
| 11 |
An EcoRI polymorphism in the AML1 gene
|
Birn, Debbi J.
|
|
1993
|
2 |
7 |
p. 1084-1084
|
artikel
|
| 12 |
A new disease-causing mutation in the GAP-related domain of the NF1 gene
|
Anglani, F.
|
|
1993
|
2 |
7 |
p. 1057-1059
|
artikel
|
| 13 |
A new mutation of exon 5 of the P53 gene in breast cancer
|
Carrere, N.
|
|
1993
|
2 |
7 |
p. 1075-1075
|
artikel
|
| 14 |
An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome
|
Lobaccaro, Jean-Marc
|
|
1993
|
2 |
7 |
p. 1041-1043
|
artikel
|
| 15 |
A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia
|
Guldberg, Per
|
|
1993
|
2 |
7 |
p. 1061-1062
|
artikel
|
| 16 |
A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
|
Cheadle, Jeremy P.
|
|
1993
|
2 |
7 |
p. 1067-1068
|
artikel
|
| 17 |
A physical map of the C6 and C7 complement component gene region on chromosome 5p13
|
Hobart, M.J.
|
|
1993
|
2 |
7 |
p. 1035-1036
|
artikel
|
| 18 |
A Pstl polymorphism in the 3′ end of the human type IV collagen alpha 3 chain (COL4A3) gene
|
Delbridge, M.L.
|
|
1993
|
2 |
7 |
p. 1086-1086
|
artikel
|
| 19 |
A Taql site identifies the *A allele at the ACP1 locus
|
Sensabaugh, G.F.
|
|
1993
|
2 |
7 |
p. 1079-1079
|
artikel
|
| 20 |
A transcription map of the region containing the Huntington disease gene
|
Rommens, J.M.
|
|
1993
|
2 |
7 |
p. 901-907
|
artikel
|
| 21 |
Author index
|
|
|
1993
|
2 |
7 |
p. 1095-1096
|
artikel
|
| 22 |
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7
|
Olson, Timothy M.
|
|
1993
|
2 |
7 |
p. 869-873
|
artikel
|
| 23 |
Banl and Pvull polymorphisms in intron 2 of selection E (SELE)
|
Powers, Patricia K.
|
|
1993
|
2 |
7 |
p. 1082-1082
|
artikel
|
| 24 |
Characterization of a human α1-antitrypsin null allele involving aberrant mRNA splicing
|
E.Laubach, Victor
|
|
1993
|
2 |
7 |
p. 1001-1005
|
artikel
|
| 25 |
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
|
Labelle, Yves
|
|
1993
|
2 |
7 |
p. 941-946
|
artikel
|
| 26 |
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient
|
Greger, Valerie
|
|
1993
|
2 |
7 |
p. 921-924
|
artikel
|
| 27 |
Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4
|
Zuo, Jlan
|
|
1993
|
2 |
7 |
p. 889-899
|
artikel
|
| 28 |
Dinucleotide repeat polymorphism at the D11S982E locus
|
Xiao, Hong
|
|
1993
|
2 |
7 |
p. 1081-1081
|
artikel
|
| 29 |
Dinucleotide repeat polymorphism at the D6S348 locus
|
Kansara, M.S.
|
|
1993
|
2 |
7 |
p. 1085-1085
|
artikel
|
| 30 |
Dinucleotide repeat polymorphism at the DXS1146 locus
|
Hong, Hee-Kyung
|
|
1993
|
2 |
7 |
p. 1078-1078
|
artikel
|
| 31 |
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p
|
Dollfus, H.
|
|
1993
|
2 |
7 |
p. 1081-1081
|
artikel
|
| 32 |
Dinucleotide repeat polymorphism at the locus D13S231
|
Saksova, Ludmila
|
|
1993
|
2 |
7 |
p. 1082-1082
|
artikel
|
| 33 |
Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci
|
Tagle, Danilo A.
|
|
1993
|
2 |
7 |
p. 1077-1077
|
artikel
|
| 34 |
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35
|
Pasterls, N.German
|
|
1993
|
2 |
7 |
p. 953-959
|
artikel
|
| 35 |
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
|
Sudbrak, R.
|
|
1993
|
2 |
7 |
p. 857-862
|
artikel
|
| 36 |
Exclusion of the involvement of all known Retinitis Pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8)
|
Kumar-Singh, Rajendra
|
|
1993
|
2 |
7 |
p. 875-878
|
artikel
|
| 37 |
Functional complementation in mouse — human radiation hybrids assigns the putative murine scid gene to the pericentric region of human chromosome 8
|
Komatsu, Kenshi
|
|
1993
|
2 |
7 |
p. 1031-1034
|
artikel
|
| 38 |
Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
|
lles, David E.
|
|
1993
|
2 |
7 |
p. 863-868
|
artikel
|
| 39 |
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
|
Pereira, Lygia
|
|
1993
|
2 |
7 |
p. 961-968
|
artikel
|
| 40 |
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
|
Ramsay, Michele
|
|
1993
|
2 |
7 |
p. 1007-1014
|
artikel
|
| 41 |
Human Bg/ll/Bc/l RFLP recognized by 3' region of human MAP 2 gene probe
|
Ding, Yuan
|
|
1993
|
2 |
7 |
p. 1080-1080
|
artikel
|
| 42 |
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene
|
Nakahashi, Yoshitsugu
|
|
1993
|
2 |
7 |
p. 1069-1070
|
artikel
|
| 43 |
Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis
|
Paul, Philip
|
|
1993
|
2 |
7 |
p. 925-931
|
artikel
|
| 44 |
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing
|
Blanquet, Véronique
|
|
1993
|
2 |
7 |
p. 975-979
|
artikel
|
| 45 |
Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8
|
Chevalier-Porst, F.
|
|
1993
|
2 |
7 |
p. 1071-1072
|
artikel
|
| 46 |
Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene
|
D.Briggs, Michael
|
|
1993
|
2 |
7 |
p. 1087-1087
|
artikel
|
| 47 |
Malignant hyperthermia hots up!
|
Johnson, Keith
|
|
1993
|
2 |
7 |
p. 849-849
|
artikel
|
| 48 |
Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST
|
Lepplg, Kathleen A.
|
|
1993
|
2 |
7 |
p. 883-887
|
artikel
|
| 49 |
Mapping the Von Hippel — Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis
|
Richards, Frances M.
|
|
1993
|
2 |
7 |
p. 879-882
|
artikel
|
| 50 |
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers
|
Morral, Núria
|
|
1993
|
2 |
7 |
p. 1015-1022
|
artikel
|
| 51 |
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements
|
Upadhyaya, M.
|
|
1993
|
2 |
7 |
p. 981-987
|
artikel
|
| 52 |
Molecular definition of the extreme size polymorphism in apolipoprotein(a)
|
Lackner, Carolin
|
|
1993
|
2 |
7 |
p. 933-940
|
artikel
|
| 53 |
Mutation analysis in patients with the typical form of Anderson — Fabry disease
|
Davies, Joanna P.
|
|
1993
|
2 |
7 |
p. 1051-1053
|
artikel
|
| 54 |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
|
Donis-Keller, Helen
|
|
1993
|
2 |
7 |
p. 851-856
|
artikel
|
| 55 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
2 |
7 |
p. 1089-1093
|
artikel
|
| 56 |
Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7
|
Yokotani, Noboru
|
|
1993
|
2 |
7 |
p. 1037-1039
|
artikel
|
| 57 |
Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23
|
M.McConville, Carmel
|
|
1993
|
2 |
7 |
p. 969-974
|
artikel
|
| 58 |
PAX6 mutations in aniridia
|
M.Hanson, Isabel
|
|
1993
|
2 |
7 |
p. 915-920
|
artikel
|
| 59 |
Positional cloning uncovers a new old oncogene
|
Frischauf, Anna-Maria
|
|
1993
|
2 |
7 |
p. 847-848
|
artikel
|
| 60 |
Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients
|
Johnston, Janet
|
|
1993
|
2 |
7 |
p. 1045-1046
|
artikel
|
| 61 |
Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12–q22
|
Flejter, Wendy L.
|
|
1993
|
2 |
7 |
p. 1080-1080
|
artikel
|
| 62 |
Tetranucleotide repeat polymorphism at the D8S344 locus
|
Ward, Kenneth
|
|
1993
|
2 |
7 |
p. 1087-1087
|
artikel
|
| 63 |
The detection of a VNTR at the Huntington disease genetic marker D4S10
|
Cariock, Leon
|
|
1993
|
2 |
7 |
p. 1079-1079
|
artikel
|
| 64 |
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions
|
Wapenaar, Martin C.
|
|
1993
|
2 |
7 |
p. 947-952
|
artikel
|
| 65 |
The state of DNA methylation in the promoter and exon 1 regions of the human gene for the interleukin-2 receptor α chain (IL-2Rα) in various cell types
|
Behn-Krappa, Annett
|
|
1993
|
2 |
7 |
p. 993-999
|
artikel
|
| 66 |
Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus
|
Byth, Barbara C.
|
|
1993
|
2 |
7 |
p. 1085-1085
|
artikel
|
Tijdschrift beschrijving