| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease
|
Attle, Tanla
|
|
1994
|
3 |
8 |
p. 1439-1440
|
artikel
|
| 2 |
A calcium channel mutation causing hypokalemic periodic paralysis
|
Jurkat-Rott, Karln
|
|
1994
|
3 |
8 |
p. 1415-1419
|
artikel
|
| 3 |
Addition of functional human telomeres to YACs
|
Taylor, Stephen S.
|
|
1994
|
3 |
8 |
p. 1383-1386
|
artikel
|
| 4 |
A (GA)n repeat polymorphism in the human protamine 2 (PRM 2) gene
|
Schnūlle, V.
|
|
1994
|
3 |
8 |
p. 1445-1445
|
artikel
|
| 5 |
Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome
|
Reik, Wolf
|
|
1994
|
3 |
8 |
p. 1297-1301
|
artikel
|
| 6 |
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy
|
Hewitt, Jane E.
|
|
1994
|
3 |
8 |
p. 1287-1295
|
artikel
|
| 7 |
An A to G polymorphism in the SHBG gene
|
Xu, Yongsheng
|
|
1994
|
3 |
8 |
p. 1443-1443
|
artikel
|
| 8 |
Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb
|
Buxton, Jessica L.
|
|
1994
|
3 |
8 |
p. 1409-1413
|
artikel
|
| 9 |
A novel mutation in the von Hippel — Lindau gene
|
B.Loeb, Deborah
|
|
1994
|
3 |
8 |
p. 1423-1424
|
artikel
|
| 10 |
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin
|
Cheadle, Jeremy P.
|
|
1994
|
3 |
8 |
p. 1431-1432
|
artikel
|
| 11 |
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
|
lida, Taku
|
|
1994
|
3 |
8 |
p. 1437-1438
|
artikel
|
| 12 |
A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA
|
Tomatsu, Shunji
|
|
1994
|
3 |
8 |
p. 1427-1428
|
artikel
|
| 13 |
An Rsa\ polymorphism for the fibrillin gene (FBN1)
|
BIack, C.M.
|
|
1994
|
3 |
8 |
p. 1442-1442
|
artikel
|
| 14 |
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines
|
J.Blake, Julian N.Schofield, Derek
|
|
1994
|
3 |
8 |
p. 1309-1316
|
artikel
|
| 15 |
Are CpG sites mutation hot spots in the dystrophin gene?
|
Akalin, Nur
|
|
1994
|
3 |
8 |
p. 1425-1426
|
artikel
|
| 16 |
Author index
|
|
|
1994
|
3 |
8 |
p. 1447-1447
|
artikel
|
| 17 |
Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene
|
Peyrard, Myriam
|
|
1994
|
3 |
8 |
p. 1393-1399
|
artikel
|
| 18 |
Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line
|
Murata, Yasushi
|
|
1994
|
3 |
8 |
p. 1341-1344
|
artikel
|
| 19 |
Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke
|
Pallanck, Leo
|
|
1994
|
3 |
8 |
p. 1239-1243
|
artikel
|
| 20 |
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness
|
M.Reld, Fiona
|
|
1994
|
3 |
8 |
p. 1435-1436
|
artikel
|
| 21 |
Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping
|
Delfau-Larue, Marie-Hélène
|
|
1994
|
3 |
8 |
p. 1325-1330
|
artikel
|
| 22 |
Ddel polymorphism in the AGTR1 gene
|
Doria, A.
|
|
1994
|
3 |
8 |
p. 1444-1444
|
artikel
|
| 23 |
Dinucleotide repeat polymorphism at the CHRND locus
|
Landa, B.L.
|
|
1994
|
3 |
8 |
p. 1445-1445
|
artikel
|
| 24 |
Dinucleotide repeat polymorphism at the DXS1684 locus
|
Gong, W.
|
|
1994
|
3 |
8 |
p. 1442-1442
|
artikel
|
| 25 |
Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci
|
Velasco, E.
|
|
1994
|
3 |
8 |
p. 1441-1441
|
artikel
|
| 26 |
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2
|
Bokhoven, H.van
|
|
1994
|
3 |
8 |
p. 1446-1446
|
artikel
|
| 27 |
Dissecting the centromere of the human Y chromosome with cloned telomeric DNA
|
Brown, K.E.
|
|
1994
|
3 |
8 |
p. 1227-1237
|
artikel
|
| 28 |
Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21
|
Ikeno, Masashi
|
|
1994
|
3 |
8 |
p. 1245-1257
|
artikel
|
| 29 |
Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference
|
Rappold, Gudrun A.
|
|
1994
|
3 |
8 |
p. 1337-1340
|
artikel
|
| 30 |
Early embryonic failure associated with uniparental disomy for human chromosome 21
|
Henderson, Deborah J.
|
|
1994
|
3 |
8 |
p. 1373-1376
|
artikel
|
| 31 |
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1
|
Marinoni, Jean-Christophe
|
|
1994
|
3 |
8 |
p. 1355-1357
|
artikel
|
| 32 |
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa
|
Souied, Eric
|
|
1994
|
3 |
8 |
p. 1433-1434
|
artikel
|
| 33 |
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
|
Sheffield, Val C.
|
|
1994
|
3 |
8 |
p. 1331-1335
|
artikel
|
| 34 |
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
|
Knowles, James A.
|
|
1994
|
3 |
8 |
p. 1401-1403
|
artikel
|
| 35 |
Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa
|
Antiolo, Guillermo
|
|
1994
|
3 |
8 |
p. 1421-1421
|
artikel
|
| 36 |
Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
|
A.Crossey, Paul
|
|
1994
|
3 |
8 |
p. 1303-1308
|
artikel
|
| 37 |
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
|
G.Puffenberger, Erik
|
|
1994
|
3 |
8 |
p. 1217-1225
|
artikel
|
| 38 |
Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture
|
Futreal, P.Andrew
|
|
1994
|
3 |
8 |
p. 1359-1364
|
artikel
|
| 39 |
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1
|
Gedde-Dahl, Tobias Jr
|
|
1994
|
3 |
8 |
p. 1387-1391
|
artikel
|
| 40 |
Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
|
Hentati, A.
|
|
1994
|
3 |
8 |
p. 1263-1267
|
artikel
|
| 41 |
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2
|
S.P.Rose, Charlotte
|
|
1994
|
3 |
8 |
p. 1405-1408
|
artikel
|
| 42 |
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6
|
Swaroop, Anand
|
|
1994
|
3 |
8 |
p. 1281-1286
|
artikel
|
| 43 |
Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome
|
Lemmink, Henny H.
|
|
1994
|
3 |
8 |
p. 1269-1273
|
artikel
|
| 44 |
Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus
|
Wenkert, David
|
|
1994
|
3 |
8 |
p. 1429-1430
|
artikel
|
| 45 |
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
|
W.Scherer, Stephen
|
|
1994
|
3 |
8 |
p. 1345-1354
|
artikel
|
| 46 |
Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization
|
Senger, Gabriele
|
|
1994
|
3 |
8 |
p. 1275-1280
|
artikel
|
| 47 |
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities
|
Lightfoot, Therese
|
|
1994
|
3 |
8 |
p. 1377-1381
|
artikel
|
| 48 |
Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s
|
Zedenlus, Jan
|
|
1994
|
3 |
8 |
p. 1259-1262
|
artikel
|
| 49 |
SSCP at the HTR1DA locus
|
Kasapi, M.
|
|
1994
|
3 |
8 |
p. 1444-1444
|
artikel
|
| 50 |
The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons
|
Sargent, Carole A.
|
|
1994
|
3 |
8 |
p. 1317-1324
|
artikel
|
| 51 |
The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination
|
MacDonald, M.
|
|
1994
|
3 |
8 |
p. 1365-1371
|
artikel
|
| 52 |
Two dinucleotide repeat polymorphisms at 17p13
|
Stack, M.
|
|
1994
|
3 |
8 |
p. 1443-1443
|
artikel
|
| 53 |
What's in a spot?
|
Houseal, Timothy W.
|
|
1994
|
3 |
8 |
p. 1215-1216
|
artikel
|
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