| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene
|
Hull, Jeremy
|
|
1993
|
|
6 |
p. 689-692
|
artikel
|
| 2 |
A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36.2
|
Kaufman, Bruce A.
|
|
1993
|
|
6 |
p. 824-824
|
artikel
|
| 3 |
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A
|
Mulligan, Lois M.
|
|
1994
|
|
6 |
p. 1007-1008
|
artikel
|
| 4 |
A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1
|
Pandolfo, M.
|
|
1993
|
|
6 |
p. 822-822
|
artikel
|
| 5 |
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus
|
Watson, Carolyn J.
|
|
1993
|
|
6 |
p. 701-704
|
artikel
|
| 6 |
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
|
Rosen, Daniel R.
|
|
1994
|
|
6 |
p. 981-987
|
artikel
|
| 7 |
A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteins
|
Duyao, Mabel P.
|
|
1993
|
|
6 |
p. 673-676
|
artikel
|
| 8 |
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
|
Guilford, Parry
|
|
1994
|
|
6 |
p. 989-993
|
artikel
|
| 9 |
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene
|
Lichter, Jay B.
|
|
1993
|
|
6 |
p. 767-773
|
artikel
|
| 10 |
Alu polymorphism in the human type I Keratin (KRT14) gene
|
Humphries, M.M.
|
|
1992
|
|
6 |
p. 453-453
|
artikel
|
| 11 |
A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes
|
Horn, Jacqueline M.
|
|
1995
|
|
6 |
p. 1041-1047
|
artikel
|
| 12 |
A microsatellite polymorphic probe on chromosome 3p: λLIB12–2CATT (D3S1244)
|
Li, Hua
|
|
1992
|
|
6 |
p. 452-452
|
artikel
|
| 13 |
A molecular deletion map of the Y chromosome long arm defining X and autosomal homologous regions and the localisation of the HYA locus to the proximal region of the Yq euchromatin
|
O'Reilly, Amanda J.
|
|
1992
|
|
6 |
p. 379-385
|
artikel
|
| 14 |
A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens
|
Agulnik, Alexander I.
|
|
1994
|
|
6 |
p. 873-878
|
artikel
|
| 15 |
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations
|
Zielenski, Julian
|
|
1993
|
|
6 |
p. 683-687
|
artikel
|
| 16 |
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain
|
Affara, Nabeel A.
|
|
1993
|
|
6 |
p. 785-789
|
artikel
|
| 17 |
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
|
Jeanpierre, M.
|
|
1993
|
|
6 |
p. 731-735
|
artikel
|
| 18 |
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
|
Greenberg, Jacquie
|
|
1994
|
|
6 |
p. 915-918
|
artikel
|
| 19 |
A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
|
Consevage, Michael W.
|
|
1994
|
|
6 |
p. 1025-1026
|
artikel
|
| 20 |
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
|
Yulug, Isik G.
|
|
1995
|
|
6 |
p. 1101-1104
|
artikel
|
| 21 |
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
|
Gibson, Rachel A.
|
|
1993
|
|
6 |
p. 797-799
|
artikel
|
| 22 |
A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease
|
Meaney, Cathy
|
|
1994
|
|
6 |
p. 1019-1020
|
artikel
|
| 23 |
A novel allelic variant of serum amyloic A, SAA1γ: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA– amyloidosis
|
Baba, Satoshi
|
|
1995
|
|
6 |
p. 1083-1087
|
artikel
|
| 24 |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
|
Schaedel, Charlotta
|
|
1994
|
|
6 |
p. 1001-1002
|
artikel
|
| 25 |
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
|
Agulnik, Alexander I.
|
|
1994
|
|
6 |
p. 879-884
|
artikel
|
| 26 |
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease
|
Goldberg, Y.Paul
|
|
1993
|
|
6 |
p. 635-636
|
artikel
|
| 27 |
A polymorphic dinucleotide repeat at the D8S339 locus
|
Thomas, Winston
|
|
1993
|
|
6 |
p. 828-828
|
artikel
|
| 28 |
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)
|
Meyer-Kleine, Christof
|
|
1994
|
|
6 |
p. 1015-1016
|
artikel
|
| 29 |
Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?
|
Poulton, Joanna
|
|
1994
|
|
6 |
p. 947-951
|
artikel
|
| 30 |
A Scal RFLP at the E-selectin (SELE) locus in a progeria family
|
Warnecke, Peter
|
|
1993
|
|
6 |
p. 825-825
|
artikel
|
| 31 |
A simple non-radioactive method for diagnosis of Huntington's disease
|
Valdes, John M.
|
|
1993
|
|
6 |
p. 633-634
|
artikel
|
| 32 |
A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis
|
Mandl, Marion
|
|
1994
|
|
6 |
p. 1009-1011
|
artikel
|
| 33 |
Author index
|
|
|
1993
|
|
6 |
p. 845-845
|
artikel
|
| 34 |
Author index
|
|
|
1995
|
|
6 |
p. 1117-1117
|
artikel
|
| 35 |
Author index
|
|
|
1992
|
|
6 |
p. 457-457
|
artikel
|
| 36 |
Author index
|
|
|
1994
|
|
6 |
p. 1033-1033
|
artikel
|
| 37 |
Autosomal dominant ‘sector’ retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin
|
Kranich, Holger
|
|
1993
|
|
6 |
p. 813-814
|
artikel
|
| 38 |
(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3
|
Weber, Bernhard
|
|
1993
|
|
6 |
p. 827-827
|
artikel
|
| 39 |
(CA)n-dinucleotide repeat polymorphism at the locus for the alpha2C adrenergic receptor (ADRA2C) on 4p16
|
Riess, Olaf
|
|
1992
|
|
6 |
p. 452-452
|
artikel
|
| 40 |
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
|
Sege-Peterson, Karin
|
|
1992
|
|
6 |
p. 427-432
|
artikel
|
| 41 |
Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
|
Whiting, Elisabeth J.
|
|
1995
|
|
6 |
p. 1063-1072
|
artikel
|
| 42 |
Characterization of the human HOX 7 cDNA and identification of polymorphic markers
|
Padanilam, B.J.
|
|
1992
|
|
6 |
p. 407-410
|
artikel
|
| 43 |
Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)
|
Arai, Eiko
|
|
1994
|
|
6 |
p. 937-939
|
artikel
|
| 44 |
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
|
Winnard, Alissa V.
|
|
1993
|
|
6 |
p. 737-744
|
artikel
|
| 45 |
Circulating human factor IX produced in keratin promoter transgenic mice: a feasibility study for gene therapy of haemophilia B
|
Alexander, M.Y.
|
|
1995
|
|
6 |
p. 993-999
|
artikel
|
| 46 |
Cloning and analysis of the murine Fanconi anemia group C cDNA
|
Wevrick, Rachel
|
|
1993
|
|
6 |
p. 655-662
|
artikel
|
| 47 |
1448C mutation linked to the Pv1. 1− genotype in Italian patients with Gaucher disease
|
Tuteja, Renu
|
|
1993
|
|
6 |
p. 781-784
|
artikel
|
| 48 |
Deletion in the prion protein gene in a demented patient
|
Diedrich, J.F.
|
|
1992
|
|
6 |
p. 443-444
|
artikel
|
| 49 |
Denaturing gradient gel electrophoresis (DGGE) assay for K-ras and N-ras genes: detection of K-ras point mutations in human lung tumour DNA
|
Ridanpää, Maaret
|
|
1993
|
|
6 |
p. 639-644
|
artikel
|
| 50 |
Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications
|
Buiting, Karin
|
|
1994
|
|
6 |
p. 893-895
|
artikel
|
| 51 |
Dinucleotide repeat polymorphism at the D1S182 locus
|
Petrukhin, Konstantin E.
|
|
1992
|
|
6 |
p. 454-454
|
artikel
|
| 52 |
Dinucleotide repeat polymorphism at the D5S253 locus
|
Bernard, L.E.
|
|
1992
|
|
6 |
p. 455-455
|
artikel
|
| 53 |
Dinucleotide repeat polymorphism at the D19S206 locus
|
Petrukhin, Konstantin E.
|
|
1992
|
|
6 |
p. 454-454
|
artikel
|
| 54 |
Dinucleotide repeat polymorphism at the D9S126 locus (9p21)
|
Fountain, Jane W.
|
|
1993
|
|
6 |
p. 823-823
|
artikel
|
| 55 |
Dinucleotide repeat polymorphism at the DXS977 locus
|
Yan, D.
|
|
1994
|
|
6 |
p. 1030-1030
|
artikel
|
| 56 |
Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR)
|
Dahl, S.Pieke
|
|
1993
|
|
6 |
p. 822-822
|
artikel
|
| 57 |
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene
|
Pérez-Jurado, Luis A.
|
|
1993
|
|
6 |
p. 827-827
|
artikel
|
| 58 |
Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH)
|
Whitcombe, D.M.
|
|
1993
|
|
6 |
p. 826-826
|
artikel
|
| 59 |
Dinucleotide repeat polymorphism at the RBP3 locus in chromosome band 10q11.2
|
Papi, L.
|
|
1992
|
|
6 |
p. 450-450
|
artikel
|
| 60 |
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2)
|
Trofatter, J.A.
|
|
1992
|
|
6 |
p. 455-455
|
artikel
|
| 61 |
Dinucleotide repeat polymorphism in the human CD40 ligand gene
|
Allen, R.Cutler
|
|
1993
|
|
6 |
p. 828-828
|
artikel
|
| 62 |
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
|
Roux, Anne-Françoise
|
|
1993
|
|
6 |
p. 821-821
|
artikel
|
| 63 |
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus
|
Velonà, I.
|
|
1993
|
|
6 |
p. 829-829
|
artikel
|
| 64 |
Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci
|
Chang, Y.-P.C.
|
|
1994
|
|
6 |
p. 1029-1029
|
artikel
|
| 65 |
Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo
|
Dunckley, Matthew G.
|
|
1993
|
|
6 |
p. 717-723
|
artikel
|
| 66 |
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
|
Eiberg, Hans
|
|
1994
|
|
6 |
p. 977-980
|
artikel
|
| 67 |
Dsal polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCR
|
Rozet, J.-M.
|
|
1994
|
|
6 |
p. 1030-1030
|
artikel
|
| 68 |
D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13
|
Krebs, Christopher J.
|
|
1993
|
|
6 |
p. 825-825
|
artikel
|
| 69 |
DXS997 localized to intron 48 of dystrophin
|
Saad, F.A.
|
|
1994
|
|
6 |
p. 1033-1034
|
artikel
|
| 70 |
EcoRV RFLP of the desmin (DES) gene and Mspl RFLP of the villin (VIL1) gene on human chromosome 2
|
Shaw, M.A.
|
|
1992
|
|
6 |
p. 448-448
|
artikel
|
| 71 |
Evolutionary conservation of possible functional domains of the human and murine XIST genes
|
Hendrich, Brian D.
|
|
1993
|
|
6 |
p. 663-672
|
artikel
|
| 72 |
Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomas
|
Becker, Karl-F.
|
|
1993
|
|
6 |
p. 803-804
|
artikel
|
| 73 |
Fine mapping of the human SCIDX1 locus at Xq12–13.1
|
Markiewicz, Sophie
|
|
1993
|
|
6 |
p. 651-654
|
artikel
|
| 74 |
Four dinucleotide repeat polymorphisms on chromosome 9 (D9S143–146)
|
Furlong, Robert A.
|
|
1992
|
|
6 |
p. 447-447
|
artikel
|
| 75 |
Four novel germ-line mutations in the APC gene detected by heteroduplex analysis
|
Hamzehloei, Tayebeh
|
|
1994
|
|
6 |
p. 1023-1024
|
artikel
|
| 76 |
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
|
Kelsell, David P.
|
|
1995
|
|
6 |
p. 1021-1025
|
artikel
|
| 77 |
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
|
Lorenz, Claudius
|
|
1994
|
|
6 |
p. 941-946
|
artikel
|
| 78 |
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la
|
Hwu, Wuh-Liang
|
|
1995
|
|
6 |
p. 1095-1096
|
artikel
|
| 79 |
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy
|
Passos-Bueno, M.R.
|
|
1994
|
|
6 |
p. 919-922
|
artikel
|
| 80 |
Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines
|
Wolf, Markus
|
|
1992
|
|
6 |
p. 371-378
|
artikel
|
| 81 |
Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
|
Ian, M.Tomlinson
|
|
1994
|
|
6 |
p. 853-860
|
artikel
|
| 82 |
Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype
|
Saxena, Richa
|
|
1994
|
|
6 |
p. 923-926
|
artikel
|
| 83 |
Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient
|
Song, X.Q.
|
|
1995
|
|
6 |
p. 1093-1094
|
artikel
|
| 84 |
Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
|
Sunada, Yoshihide
|
|
1995
|
|
6 |
p. 1055-1061
|
artikel
|
| 85 |
Identification of genes using oligonucleotides corresponding to splice site consensus sequences
|
Melmer, Georg
|
|
1992
|
|
6 |
p. 433-438
|
artikel
|
| 86 |
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing
|
Savov, A.
|
|
1994
|
|
6 |
p. 1033-1034
|
artikel
|
| 87 |
Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X; 18)(p11.2;q11.2)-positive synoviaol sarcomas
|
de Leeuw, B.
|
|
1995
|
|
6 |
p. 1097-1099
|
artikel
|
| 88 |
Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin
|
Petreska, Lidija
|
|
1994
|
|
6 |
p. 999-1000
|
artikel
|
| 89 |
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
|
Esteban, Jesus
|
|
1994
|
|
6 |
p. 997-998
|
artikel
|
| 90 |
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
|
Ogasawara, Masahito
|
|
1994
|
|
6 |
p. 867-872
|
artikel
|
| 91 |
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease
|
Riess, Olaf
|
|
1993
|
|
6 |
p. 637-637
|
artikel
|
| 92 |
Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat
|
Crow, S.R.
|
|
1992
|
|
6 |
p. 451-451
|
artikel
|
| 93 |
Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs
|
Loyer, Magali
|
|
1995
|
|
6 |
p. 1035-1039
|
artikel
|
| 94 |
Intergenerational stability of the myotonic dystrophy protomutation
|
Barceló, Juana M.
|
|
1993
|
|
6 |
p. 705-709
|
artikel
|
| 95 |
Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region
|
Schindelhauer, D.
|
|
1994
|
|
6 |
p. 1027-1027
|
artikel
|
| 96 |
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
|
Wadey, Roy
|
|
1995
|
|
6 |
p. 1027-1033
|
artikel
|
| 97 |
Linkage of a gene for dominant non-syndromic deafness to chromosome 19
|
Chen, Achih H.
|
|
1995
|
|
6 |
p. 1073-1076
|
artikel
|
| 98 |
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
|
Hennies, Hans-Christian
|
|
1995
|
|
6 |
p. 1015-1020
|
artikel
|
| 99 |
Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
|
Iles, D.E.
|
|
1994
|
|
6 |
p. 969-975
|
artikel
|
| 100 |
Long-term persistence of plasmid DNA and foreign gone expression in mouse muscle
|
Wolff, Jon A.
|
|
1992
|
|
6 |
p. 363-369
|
artikel
|
| 101 |
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
|
Carlton, Victoria E.H.
|
|
1995
|
|
6 |
p. 1049-1053
|
artikel
|
| 102 |
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
|
Maestrini, E.
|
|
1993
|
|
6 |
p. 761-766
|
artikel
|
| 103 |
Missense mutation in the choroideremia gene
|
Donnelly, P.
|
|
1994
|
|
6 |
p. 1017-1017
|
artikel
|
| 104 |
Molecular defect in a patient with pyridoxine-responsive homocystinuria
|
Kozich, Viktor
|
|
1993
|
|
6 |
p. 815-816
|
artikel
|
| 105 |
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters
|
Cobo, A.
|
|
1993
|
|
6 |
p. 711-715
|
artikel
|
| 106 |
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis
|
Kuwano, Akira
|
|
1992
|
|
6 |
p. 417-425
|
artikel
|
| 107 |
Molecular genetic analysis of the 3p — syndrome
|
Phipps, Maude E.
|
|
1994
|
|
6 |
p. 903-908
|
artikel
|
| 108 |
Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments
|
Bernards, Andre
|
|
1993
|
|
6 |
p. 645-650
|
artikel
|
| 109 |
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
|
Bunge, Susanna
|
|
1994
|
|
6 |
p. 861-866
|
artikel
|
| 110 |
Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)
|
Fairweather, N.
|
|
1994
|
|
6 |
p. 1033-1034
|
artikel
|
| 111 |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
|
OIdridge, M.
|
|
1995
|
|
6 |
p. 1077-1082
|
artikel
|
| 112 |
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
|
Sainz, Jesús
|
|
1994
|
|
6 |
p. 885-891
|
artikel
|
| 113 |
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
|
Nouspikel, Thierry
|
|
1994
|
|
6 |
p. 963-967
|
artikel
|
| 114 |
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
|
Rousseau, François
|
|
1994
|
|
6 |
p. 927-930
|
artikel
|
| 115 |
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene
|
Lázaro, Conxi
|
|
1993
|
|
6 |
p. 725-730
|
artikel
|
| 116 |
One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients
|
Tsukamoto, Hiroko
|
|
1994
|
|
6 |
p. 995-996
|
artikel
|
| 117 |
Polymorphisms in the keratin 8 gene detected by PCR
|
McLean, W.H.I.
|
|
1994
|
|
6 |
p. 1031-1031
|
artikel
|
| 118 |
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1α subunit
|
Hansen, L.L.
|
|
1993
|
|
6 |
p. 805-807
|
artikel
|
| 119 |
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit
|
Hansen, Lise Lotte
|
|
1994
|
|
6 |
p. 1021-1022
|
artikel
|
| 120 |
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes
|
Krook, Anna
|
|
1992
|
|
6 |
p. 391-395
|
artikel
|
| 121 |
Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)
|
Gosden, John
|
|
1994
|
|
6 |
p. 931-936
|
artikel
|
| 122 |
Refined localization and yeast artificial chromosome (YAC) contig—mapping of genes and DNA segments in the 7q21–q32 region
|
Scherer, Stephen W.
|
|
1993
|
|
6 |
p. 751-760
|
artikel
|
| 123 |
Seven polymorphisms at the COL10A1 locus
|
Rash, B.
|
|
1994
|
|
6 |
p. 1032-1032
|
artikel
|
| 124 |
Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35
|
Fujimori, Minoru
|
|
1993
|
|
6 |
p. 824-824
|
artikel
|
| 125 |
Single base polymorphism at −511 in the human interleukin-1β gene (IL1β)
|
Giovine, F.S. di
|
|
1992
|
|
6 |
p. 450-450
|
artikel
|
| 126 |
Six dinucleotide microsatellite polymorphisms on human chromosome 3
|
Schmidt, Laura
|
|
1993
|
|
6 |
p. 817-818
|
artikel
|
| 127 |
SSCP at the BTK locus
|
Vořechovský, I.
|
|
1994
|
|
6 |
p. 1031-1031
|
artikel
|
| 128 |
SSCP polymorphism in the human hepatic triglyceride lipase (LIPC) gene
|
Reina, M.
|
|
1992
|
|
6 |
p. 453-453
|
artikel
|
| 129 |
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred
|
Piersall, Linda D.
|
|
1994
|
|
6 |
p. 1013-1014
|
artikel
|
| 130 |
Taql and Bsu361 polymorphisms in the human glycoprotein Ibα gene (GPIBα)
|
Petersen, E.J.
|
|
1992
|
|
6 |
p. 451-451
|
artikel
|
| 131 |
Taql and Rsal polymorphisms in the H19 gene (D11S813E)
|
Redeker, E.
|
|
1993
|
|
6 |
p. 823-823
|
artikel
|
| 132 |
Taql polymorphism in the human thyrotropin receptor gene (TSHR)
|
Luo, W.
|
|
1993
|
|
6 |
p. 826-826
|
artikel
|
| 133 |
Taql RFLP at norepinephrine transporter protein (NET) locus
|
Gelernter, Joel
|
|
1993
|
|
6 |
p. 820-820
|
artikel
|
| 134 |
Testis-Specific, alternative splicing of rodent CFTR mRNA
|
Trezsie, Ann E.O.
|
|
1993
|
|
6 |
p. 801-802
|
artikel
|
| 135 |
The cloning and expression of a sodium channel β1-subunit cDNA from human brain
|
McClatchey, Andrea I.
|
|
1993
|
|
6 |
p. 745-749
|
artikel
|
| 136 |
The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland
|
Själander, A.
|
|
1995
|
|
6 |
p. 1105-1108
|
artikel
|
| 137 |
The effect of Robertsonian translocation on recombination on chromosome 21
|
Wolff, Daynna J.
|
|
1993
|
|
6 |
p. 693-699
|
artikel
|
| 138 |
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb
|
Duclos, F.
|
|
1994
|
|
6 |
p. 909-914
|
artikel
|
| 139 |
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24
|
Rampazzo, Alessandra
|
|
1994
|
|
6 |
p. 959-962
|
artikel
|
| 140 |
Three microsatellite polymorphisms at the recoverin locus on chromosome 17
|
Wiechmann, A.F.
|
|
1994
|
|
6 |
p. 1028-1028
|
artikel
|
| 141 |
Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351
|
Li, Hua
|
|
1993
|
|
6 |
p. 819-819
|
artikel
|
| 142 |
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
|
Schöls, Ludger
|
|
1995
|
|
6 |
p. 1001-1005
|
artikel
|
| 143 |
Trinucleotide repeat polymorphism at the D5S373 locus
|
Dixon, Jill
|
|
1993
|
|
6 |
p. 829-829
|
artikel
|
| 144 |
Two complementation groups account for most cases of inherited MHC class II deficiency
|
Lisowska-Grospierre, Barbara
|
|
1994
|
|
6 |
p. 953-958
|
artikel
|
| 145 |
Two independent polymorphisms at the 17β-hydroxysteroid dehydrogenase (EDH17B) gene (17q21)
|
Friedman, Lori S.
|
|
1993
|
|
6 |
p. 821-821
|
artikel
|
| 146 |
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
|
Tsujino, Seiichi
|
|
1994
|
|
6 |
p. 1005-1006
|
artikel
|
| 147 |
Two novel insertions in the prion protein gene in patients with lateonset dementia
|
L.Laplanche, J.
|
|
1995
|
|
6 |
p. 1109-1111
|
artikel
|
| 148 |
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
|
Romey, Marie-Catherine
|
|
1994
|
|
6 |
p. 1003-1004
|
artikel
|
| 149 |
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
|
Deng, Han-Xiang
|
|
1995
|
|
6 |
p. 1113-1116
|
artikel
|
| 150 |
Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer
|
Mousses, Spyro
|
|
1995
|
|
6 |
p. 1089-1092
|
artikel
|
| 151 |
TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12
|
Haire, Robert N.
|
|
1994
|
|
6 |
p. 897-901
|
artikel
|
| 152 |
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion
|
Morral, Núria
|
|
1993
|
|
6 |
p. 677-681
|
artikel
|
| 153 |
Unusual length polymorphism in human steroid 5α-reductase type 2 gene (SRD5A2)
|
Davis, Daphne L.
|
|
1993
|
|
6 |
p. 820-820
|
artikel
|
| 154 |
YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region
|
Pengue, Gina
|
|
1993
|
|
6 |
p. 791-796
|
artikel
|
| 155 |
YAC cloning Mus musculustelomeric DNA: physical, genetic, in situand STS markers for the distal telomere of chromosome 10
|
Kipling, David
|
|
1995
|
|
6 |
p. 1007-1014
|
artikel
|
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