| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients
|
E.Cleaver, James
|
|
1995
|
|
9 |
p. 1685-1687
|
artikel
|
| 2 |
A de novo deletion in FMR1 in a patient with developmental delay
|
Gu, Yanghong
|
|
1994
|
|
9 |
p. 1705-1706
|
artikel
|
| 3 |
A dinucleotide repeat polymorphism at the D9S749 locus
|
Brown, G.M.
|
|
1994
|
|
9 |
p. 1713-1713
|
artikel
|
| 4 |
A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen
|
Narcisi, Paolo
|
|
1994
|
|
9 |
p. 1617-1620
|
artikel
|
| 5 |
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia
|
Reymer, Paul W.A.
|
|
1995
|
|
9 |
p. 1543-1549
|
artikel
|
| 6 |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease
|
Paganl, Franco
|
|
1994
|
|
9 |
p. 1605-1609
|
artikel
|
| 7 |
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis
|
Olson, Timothy M.
|
|
1995
|
|
9 |
p. 1677-1679
|
artikel
|
| 8 |
Allelic association and linkage studies in Wilson disease
|
Thomas, Gordon R.
|
|
1993
|
|
9 |
p. 1401-1405
|
artikel
|
| 9 |
A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males
|
Nakahori, Y.
|
|
1994
|
|
9 |
p. 1709-1709
|
artikel
|
| 10 |
Amino acid polymorphism (Gly209Ser) in the ACADS gene
|
Kristensen, M.J.
|
|
1994
|
|
9 |
p. 1711-1711
|
artikel
|
| 11 |
A muscle-specific DNase I-like gene in human Xq28
|
Parrish, Julia E.
|
|
1995
|
|
9 |
p. 1557-1564
|
artikel
|
| 12 |
An EcoRI polymorphism within the dipeptidyl peptidase IV (DPPIV) gene
|
Abbott, C.A.
|
|
1993
|
|
9 |
p. 1507-1507
|
artikel
|
| 13 |
A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
|
Consevage, M.W.
|
|
1994
|
|
9 |
p. 1716-1716
|
artikel
|
| 14 |
A new (old) deletion in the choroideremia gene
|
Pascal, O.
|
|
1993
|
|
9 |
p. 1489-1489
|
artikel
|
| 15 |
An Mspl polymorphism at the D7S599E locus
|
Hampson, R.M.
|
|
1993
|
|
9 |
p. 1510-1510
|
artikel
|
| 16 |
An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13
|
Dittrich, Bärbel
|
|
1993
|
|
9 |
p. 1509-1509
|
artikel
|
| 17 |
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa
|
Dunnill, M.G.S.
|
|
1994
|
|
9 |
p. 1693-1694
|
artikel
|
| 18 |
A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues
|
Tsang, Patricia
|
|
1995
|
|
9 |
p. 1499-1507
|
artikel
|
| 19 |
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
|
Heine, Roland
|
|
1993
|
|
9 |
p. 1349-1353
|
artikel
|
| 20 |
A novel splicing abnormality in a Japanese patient with Gaucher's disease
|
Ohshlma, Toshio
|
|
1993
|
|
9 |
p. 1497-1498
|
artikel
|
| 21 |
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family
|
Morell, Robert
|
|
1993
|
|
9 |
p. 1487-1488
|
artikel
|
| 22 |
A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism
|
Spritz, R.A.
|
|
1993
|
|
9 |
p. 1499-1500
|
artikel
|
| 23 |
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p
|
Boon, Laurence M.
|
|
1994
|
|
9 |
p. 1583-1587
|
artikel
|
| 24 |
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
|
Brunner, Han G.
|
|
1994
|
|
9 |
p. 1561-1564
|
artikel
|
| 25 |
Author index
|
|
|
1994
|
|
9 |
p. 1715-1715
|
artikel
|
| 26 |
Author index
|
|
|
1995
|
|
9 |
p. 1697-1697
|
artikel
|
| 27 |
Author index
|
|
|
1993
|
|
9 |
p. 1521-1521
|
artikel
|
| 28 |
Candidate regions for a testicular cancer susceptibility gene
|
Leahy, Michael G.
|
|
1995
|
|
9 |
p. 1551-1555
|
artikel
|
| 29 |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
|
Wang, Qing
|
|
1995
|
|
9 |
p. 1603-1607
|
artikel
|
| 30 |
CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization
|
Tassone, Flora
|
|
1995
|
|
9 |
p. 1509-1518
|
artikel
|
| 31 |
Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay
|
Llnnenbach, Alban J.
|
|
1993
|
|
9 |
p. 1407-1411
|
artikel
|
| 32 |
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
|
Petrukhin, Konstantin
|
|
1994
|
|
9 |
p. 1647-1656
|
artikel
|
| 33 |
Cloning and characterization of alternatively spliced isoforms of Dp71
|
Richard C., Austin
|
|
1995
|
|
9 |
p. 1475-1483
|
artikel
|
| 34 |
Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12
|
Xle, Ya-Gang
|
|
1993
|
|
9 |
p. 1361-1368
|
artikel
|
| 35 |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
|
I.Goodman, Stephen
|
|
1995
|
|
9 |
p. 1493-1498
|
artikel
|
| 36 |
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
|
Fukushima, Kunihiro
|
|
1995
|
|
9 |
p. 1643-1648
|
artikel
|
| 37 |
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases
|
LeGuern, E.
|
|
1995
|
|
9 |
p. 1673-1674
|
artikel
|
| 38 |
Correct usage of a mutated G+1 splice site and transcript quantitation in a lipoprotein lipase-deficient patient
|
Pepe, Gabriella
|
|
1993
|
|
9 |
p. 1455-1459
|
artikel
|
| 39 |
Deletion of the ferrochelatase gene in a patient with protoporphyria
|
Magness, Scott T.
|
|
1994
|
|
9 |
p. 1695-1697
|
artikel
|
| 40 |
Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
|
Simard, Jacques
|
|
1994
|
|
9 |
p. 1689-1691
|
artikel
|
| 41 |
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII
|
Takamlya, Osamu
|
|
1993
|
|
9 |
p. 1355-1359
|
artikel
|
| 42 |
Dinucleotide repeat polymorphism at D14S542
|
Carey, M.L.
|
|
1994
|
|
9 |
p. 1712-1712
|
artikel
|
| 43 |
Dinucleotide repeat polymorphism at the KCNA5 locus
|
Phromchotikul, T.
|
|
1993
|
|
9 |
p. 1512-1512
|
artikel
|
| 44 |
Dinucleotide repeat polymorphism in the human IL1A gene
|
Epplen, C.
|
|
1994
|
|
9 |
p. 1710-1710
|
artikel
|
| 45 |
Dinucleotide repeat polymorphism in the inter-feron-gamma (IFNG) gene
|
Rulz-Linares, A.
|
|
1993
|
|
9 |
p. 1508-1508
|
artikel
|
| 46 |
Dinucleotide repeat polymorphism in the promoter region of neurotrophin-3 gene (NT3)
|
Hattori, M.
|
|
1993
|
|
9 |
p. 1511-1511
|
artikel
|
| 47 |
Dystroglycan: brain localisation and chromosome mapping in the mouse
|
C.Górecki, Darlusz
|
|
1994
|
|
9 |
p. 1589-1597
|
artikel
|
| 48 |
EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)
|
Gibson, Rachel A.
|
|
1993
|
|
9 |
p. 1509-1509
|
artikel
|
| 49 |
Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene
|
Paffenholz, Ralner
|
|
1994
|
|
9 |
p. 1703-1704
|
artikel
|
| 50 |
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1
|
Cancel, Géraldine
|
|
1993
|
|
9 |
p. 1477-1479
|
artikel
|
| 51 |
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
|
Byck, Susan
|
|
1994
|
|
9 |
p. 1675-1677
|
artikel
|
| 52 |
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin
|
Zühike, Christine
|
|
1993
|
|
9 |
p. 1467-1469
|
artikel
|
| 53 |
Familial non-specific dementia maps to chromosome 3
|
Brown, Jerry
|
|
1995
|
|
9 |
p. 1625-1628
|
artikel
|
| 54 |
Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3
|
Shen, Y.
|
|
1993
|
|
9 |
p. 1504-1504
|
artikel
|
| 55 |
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients
|
Stella, Alessandro
|
|
1994
|
|
9 |
p. 1687-1688
|
artikel
|
| 56 |
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
|
Richards, R.I.
|
|
1993
|
|
9 |
p. 1429-1435
|
artikel
|
| 57 |
Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia
|
Sanchez, Roclo
|
|
1994
|
|
9 |
p. 1639-1645
|
artikel
|
| 58 |
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus
|
Stevanin, Glovanni
|
|
1993
|
|
9 |
p. 1483-1485
|
artikel
|
| 59 |
G/T polymorphism in CRYA2 gene
|
Ashworth, A.
|
|
1994
|
|
9 |
p. 1712-1712
|
artikel
|
| 60 |
Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3
|
Winderickx, Joris
|
|
1993
|
|
9 |
p. 1413-1421
|
artikel
|
| 61 |
HindIll RFLP in the human CD53 gene on 1p13
|
Gallego, M.I.
|
|
1994
|
|
9 |
p. 1711-1711
|
artikel
|
| 62 |
Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype
|
Rautenstrauβ, Bernd
|
|
1994
|
|
9 |
p. 1701-1702
|
artikel
|
| 63 |
Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria
|
Todd, David J.
|
|
1993
|
|
9 |
p. 1495-1496
|
artikel
|
| 64 |
Identification of genes within CpG-enriched DNA from human chromosome 4p16.3
|
John, Rosallnd M.
|
|
1994
|
|
9 |
p. 1611-1616
|
artikel
|
| 65 |
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
|
Browne, D.L.
|
|
1995
|
|
9 |
p. 1671-1672
|
artikel
|
| 66 |
Instructions to Authors
|
|
|
1994
|
|
9 |
p. 1717-1719
|
artikel
|
| 67 |
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency
|
Tassara, Carla
|
|
1995
|
|
9 |
p. 1693-1695
|
artikel
|
| 68 |
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
|
Anvret, M.
|
|
1993
|
|
9 |
p. 1397-1400
|
artikel
|
| 69 |
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3
|
Fukai, Kazuyoshi
|
|
1995
|
|
9 |
p. 1665-1669
|
artikel
|
| 70 |
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
|
Hazan, Jamilé
|
|
1994
|
|
9 |
p. 1569-1573
|
artikel
|
| 71 |
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
|
Baldwin, Clinton T.
|
|
1995
|
|
9 |
p. 1637-1642
|
artikel
|
| 72 |
Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
|
Loughlin, John
|
|
1995
|
|
9 |
p. 1649-1651
|
artikel
|
| 73 |
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q
|
Forsman, Kristina
|
|
1994
|
|
9 |
p. 1621-1625
|
artikel
|
| 74 |
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
|
Hillaire, Dominique
|
|
1994
|
|
9 |
p. 1657-1661
|
artikel
|
| 75 |
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
|
Kelsell, Rosemary E.
|
|
1995
|
|
9 |
p. 1653-1656
|
artikel
|
| 76 |
Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome
|
Kenwrick, Susan
|
|
1993
|
|
9 |
p. 1461-1462
|
artikel
|
| 77 |
Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping
|
Nicole, Sophie
|
|
1995
|
|
9 |
p. 1633-1636
|
artikel
|
| 78 |
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
|
Christodoulou, Kyproula
|
|
1995
|
|
9 |
p. 1629-1632
|
artikel
|
| 79 |
MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region
|
Smith, Matthijs J.
|
|
1994
|
|
9 |
p. 1575-1582
|
artikel
|
| 80 |
Microsatellite repeat polymorphism at the D16S366 locus
|
Schultz, E.A.
|
|
1994
|
|
9 |
p. 1713-1713
|
artikel
|
| 81 |
Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients
|
Glenn, Christopher C.
|
|
1993
|
|
9 |
p. 1377-1382
|
artikel
|
| 82 |
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)
|
Bonthron, David T.
|
|
1994
|
|
9 |
p. 1627-1631
|
artikel
|
| 83 |
Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype
|
Okamoto, Nobuhiko
|
|
1994
|
|
9 |
p. 1565-1568
|
artikel
|
| 84 |
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNAleuUUR in patients with the MELAS phenotype
|
J.Morten, Karl
|
|
1995
|
|
9 |
p. 1689-1691
|
artikel
|
| 85 |
Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype
|
S.Scott, Hamish
|
|
1993
|
|
9 |
p. 1471-1473
|
artikel
|
| 86 |
Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
|
Gough, Stephen C.L.
|
|
1995
|
|
9 |
p. 1609-1612
|
artikel
|
| 87 |
Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B
|
Hayasaka, Kiyoshi
|
|
1993
|
|
9 |
p. 1369-1372
|
artikel
|
| 88 |
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
|
Faà, V.
|
|
1994
|
|
9 |
p. 1685-1686
|
artikel
|
| 89 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993
|
|
9 |
p. 1515-1520
|
artikel
|
| 90 |
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination
|
Sherman, Stephanie L.
|
|
1994
|
|
9 |
p. 1529-1535
|
artikel
|
| 91 |
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
|
Orimo, Hideo
|
|
1994
|
|
9 |
p. 1683-1684
|
artikel
|
| 92 |
Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje Gsα gene
|
Shenker, Andrew
|
|
1995
|
|
9 |
p. 1675-1676
|
artikel
|
| 93 |
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
|
Zhou, Jianhua
|
|
1994
|
|
9 |
p. 1599-1603
|
artikel
|
| 94 |
p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer
|
Williamson, Magall P.
|
|
1995
|
|
9 |
p. 1569-1577
|
artikel
|
| 95 |
p53 Gain-of-function mutation in codon 175 is a rare event in human breast cancer
|
Runnebaum, I.B.
|
|
1993
|
|
9 |
p. 1501-1502
|
artikel
|
| 96 |
Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts
|
Gecz, J.
|
|
1993
|
|
9 |
p. 1389-1396
|
artikel
|
| 97 |
Population genetics of trinucleotide repeat polymorphisms
|
Watkins, W.S.
|
|
1995
|
|
9 |
p. 1485-1491
|
artikel
|
| 98 |
Precursor arrays for triplet repeat expansion at the fragile X locus
|
Hirst, Mark C.
|
|
1994
|
|
9 |
p. 1553-1560
|
artikel
|
| 99 |
Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
|
Schmitt, Ina
|
|
1995
|
|
9 |
p. 1619-1624
|
artikel
|
| 100 |
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
|
M.Christiano, Angela
|
|
1995
|
|
9 |
p. 1579-1583
|
artikel
|
| 101 |
Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus
|
Rider, Sue H.
|
|
1993
|
|
9 |
p. 1510-1510
|
artikel
|
| 102 |
Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata
|
Barbaux, Sandrine
|
|
1995
|
|
9 |
p. 1565-1568
|
artikel
|
| 103 |
p53 tagged sites from human genomic DNA
|
Tokino, Takashi
|
|
1994
|
|
9 |
p. 1537-1542
|
artikel
|
| 104 |
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells
|
Yorlfujl, Tohru
|
|
1993
|
|
9 |
p. 1443-1448
|
artikel
|
| 105 |
Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13
|
de Fatima, Maria
|
|
1994
|
|
9 |
p. 1663-1673
|
artikel
|
| 106 |
Separation anxiety: the etiology of nondisjunction in flies and people
|
Hawley, R.Scott
|
|
1994
|
|
9 |
p. 1521-1528
|
artikel
|
| 107 |
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
|
Snow, Karen
|
|
1994
|
|
9 |
p. 1543-1551
|
artikel
|
| 108 |
Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels
|
Mancini, Francesco P.
|
|
1995
|
|
9 |
p. 1535-1542
|
artikel
|
| 109 |
Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes
|
Rubinsztein, David C.
|
|
1995
|
|
9 |
p. 1585-1590
|
artikel
|
| 110 |
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
|
Azlbi, Kemal
|
|
1993
|
|
9 |
p. 1423-1428
|
artikel
|
| 111 |
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
|
P.Leeflang, Esther
|
|
1995
|
|
9 |
p. 1519-1526
|
artikel
|
| 112 |
Single-step screening method for the most common mutations in familial adenomatous polyposis
|
Friedl, Waltraut
|
|
1993
|
|
9 |
p. 1481-1482
|
artikel
|
| 113 |
Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1
|
Shen, Y.
|
|
1993
|
|
9 |
p. 1505-1505
|
artikel
|
| 114 |
Somatic mutations of the APC gene in precancerous lesion of the stomach
|
Nakatsuru, Shulchl
|
|
1993
|
|
9 |
p. 1463-1465
|
artikel
|
| 115 |
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism
|
Quan, Franklin
|
|
1995
|
|
9 |
p. 1681-1684
|
artikel
|
| 116 |
SSC polymorphisms in interleukin genes
|
Borish, L.
|
|
1994
|
|
9 |
p. 1710-1710
|
artikel
|
| 117 |
Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
|
Carrera, Paola
|
|
1993
|
|
9 |
p. 1437-1441
|
artikel
|
| 118 |
Tetranucleotide repeat polymorphism at the D8S320 locus
|
Rlley, Robyn
|
|
1993
|
|
9 |
p. 1512-1512
|
artikel
|
| 119 |
The density of transcriptional elements in promoter and non-promoter sequences
|
Prestrldge, Dan S.
|
|
1993
|
|
9 |
p. 1449-1453
|
artikel
|
| 120 |
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21
|
Tonin, Patricia
|
|
1994
|
|
9 |
p. 1679-1682
|
artikel
|
| 121 |
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
|
M.Serratosa, José
|
|
1995
|
|
9 |
p. 1657-1663
|
artikel
|
| 122 |
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci
|
Jodice, Caria
|
|
1993
|
|
9 |
p. 1383-1387
|
artikel
|
| 123 |
The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous
|
Dresser, David W.
|
|
1995
|
|
9 |
p. 1613-1618
|
artikel
|
| 124 |
The human D11S554 locus: four distinct families of repeat pattern alleles at one locus
|
Adams, Mala
|
|
1993
|
|
9 |
p. 1373-1376
|
artikel
|
| 125 |
The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments
|
Hart, Stephen L.
|
|
1995
|
|
9 |
p. 1597-1602
|
artikel
|
| 126 |
The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines
|
Spelbrink, Johannes N.
|
|
1995
|
|
9 |
p. 1591-1596
|
artikel
|
| 127 |
The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene
|
Kovacs, Dora M.
|
|
1995
|
|
9 |
p. 1527-1533
|
artikel
|
| 128 |
The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient
|
Pritchard-Jones, K.
|
|
1994
|
|
9 |
p. 1633-1637
|
artikel
|
| 129 |
Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11–p13.3
|
Shen, Y.
|
|
1993
|
|
9 |
p. 1506-1506
|
artikel
|
| 130 |
Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families
|
Nørremølle, Anne
|
|
1993
|
|
9 |
p. 1475-1476
|
artikel
|
| 131 |
Trinucleotide repeat polymorphism at D6S366
|
W.Panzer, Shawn
|
|
1993
|
|
9 |
p. 1511-1511
|
artikel
|
| 132 |
Trinucleotide repeat polymorphism at DXS101
|
Allen, R.Cutier
|
|
1993
|
|
9 |
p. 1508-1508
|
artikel
|
| 133 |
Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21
|
lizuka, Masayoshi
|
|
1994
|
|
9 |
p. 1707-1708
|
artikel
|
| 134 |
Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis
|
Zhong, Jun
|
|
1993
|
|
9 |
p. 1491-1492
|
artikel
|
| 135 |
X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32
|
Orth, Ulrike
|
|
1994
|
|
9 |
p. 1699-1700
|
artikel
|
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