Digitale Bibliotheek
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                             126 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea Nichols, B.E.
1993
5 p. 601-603
artikel
2 A complex dinucleotide repeat polymorphism in the human Na+K+ATPass alpha subunit (ATP1A2) gene Lim, Lionel C.C.
1993
5 p. 616-616
artikel
3 Additional polymorphism at a CHR 9 reference locus (D9S12) Yuille, M.A.R.
1992
5 p. 351-351
artikel
4 A dinucleotide repeat polymorphism in the gene for the γ subunit of the human Fcε receptors (FLER16) Brini, Anna T.
1993
5 p. 619-619
artikel
5 A gene for hereditary multiple exostoses maps to chromosome 19p Le Merrer, Marline
1994
5 p. 717-722
artikel
6 A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture Khandjian, Edouard W.
1995
5 p. 783-789
artikel
7 A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene Tupler, R.
1993
5 p. 620-620
artikel
8 A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa Kivirikko, Sirpa
1995
5 p. 959-962
artikel
9 A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region Lamour, Valé
1995
5 p. 791-799
artikel
10 Allele-specific MVR-PCR analysis at minisatellite D1S8 Monckton, Darren G.
1993
5 p. 513-519
artikel
11 A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20 Stafford, A.N.
1994
5 p. 779-785
artikel
12 An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient Boye, E.
1993
5 p. 595-596
artikel
13 A new probe detecting HLA-8 gene polymorphism Alizadeh, M.
1993
5 p. 617-617
artikel
14 Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping Davies, E.
1994
5 p. 838-838
artikel
15 An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21 Nižetić, Dean
1994
5 p. 759-770
artikel
16 An Mspl RFLP in the human ARNT gene, encoding a subunit of the nuclear form of the Ah (dioxin) receptor Johnson, Barton S.
1992
5 p. 351-351
artikel
17 A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern Gilbert-Dussardier, Brigitte
1994
5 p. 831-832
artikel
18 A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency Maekawa, Masato
1994
5 p. 825-826
artikel
19 A novel dystrophin isoform is required for normal retinal electrophysiology D'Souza, Vinita N.
1995
5 p. 837-842
artikel
20 A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR Ichii, Shigetoshi
1993
5 p. 597-597
artikel
21 A novel nuclear protein binds centromeric alpha satellite DNA Gaff, C.
1994
5 p. 711-716
artikel
22 Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site Tinsley, Jonathon M.
1993
5 p. 521-524
artikel
23 A Rsal polymorphism in the ERCC2 locus von Deimling, A.
1992
5 p. 355-355
artikel
24 A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria Goltsov, Alexei A.
1993
5 p. 577-581
artikel
25 Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2 G.Young, Stephen
1994
5 p. 741-744
artikel
26 A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q Vincent, P.
1995
5 p. 945-949
artikel
27 A two-allele Pstl RFLP for the alpha-1C adrenergic receptor gene (ADRA1C) Hoehe, Margret R.
1992
5 p. 349-349
artikel
28 Author index 1993
5 p. 631-631
artikel
29 Author index 1994
5 p. 851-851
artikel
30 Author index 1995
5 p. 973-973
artikel
31 BLOCK-based PCR markers to find gene family members in human and comparative genome analysis D'Esposito, Maurizlo
1994
5 p. 735-740
artikel
32 (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein Khurana, T.S.
1994
5 p. 841-841
artikel
33 Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins Albertella, Mark R.
1994
5 p. 793-799
artikel
34 Characterization of FMR1 proteins isolated from different tissues Verhell, Coleta
1995
5 p. 895-901
artikel
35 Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes Lengauer, Christoph
1993
5 p. 505-512
artikel
36 Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I Tsukamoto, Kazuhiro
1992
5 p. 315-317
artikel
37 Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome Baird, Paul N.
1992
5 p. 301-305
artikel
38 Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Lunt, Peter W.
1995
5 p. 951-958
artikel
39 Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes Fernie, B.A.
1993
5 p. 591-592
artikel
40 CORRIGENDUM Borish, L.
1995
5 p. 974-974
artikel
41 CORRIGENDUM Kobayashi, K.
1995
5 p. 974-974
artikel
42 CORRIGENDUM 1994
5 p. 852-852
artikel
43 Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies Lawson, Claire T.
1995
5 p. 963-967
artikel
44 Deletions in the prion protein gene are not associated with CJD Palmer, Mark S.
1993
5 p. 541-544
artikel
45 De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells Larin, Zoia
1994
5 p. 689-695
artikel
46 Dinculeotide repeat polymorphism in the HOX4E locus Rosen, D.R.
1993
5 p. 617-617
artikel
47 Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4 Overbeck, Larry D.
1993
5 p. 611-611
artikel
48 Dinucleotide repeat polymorphism at D21S49 (21 q22.3) Bespalova, I.N.
1993
5 p. 613-613
artikel
49 Dinucleotide repeat polymorphism at the D3S1255 locus Klauck, S.M.
1994
5 p. 840-840
artikel
50 Dinucleotide repeat polymorphism at the D21S65 locus Goto, J.
1992
5 p. 350-350
artikel
51 Dinucleotide repeat polymorphism at the D4S251 locus Petrukhin, Konstantin E.
1992
5 p. 349-349
artikel
52 Dinucleotide repeat polymorphism at the D3S666 locus Klauck, S.M.
1994
5 p. 840-840
artikel
53 Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene Goto, J.
1993
5 p. 616-616
artikel
54 Dinucleotide repeat polymorphism at the DXS1111 locus Browne, D.L.
1993
5 p. 611-611
artikel
55 Dinucleotide repeat polymorphism at the DXS556 locus Thiselton, D.L.
1993
5 p. 613-613
artikel
56 Dinucleotide repeat polymorphism at the GABAA receptor α5 (GABRA5) locus at chromosome 15q11-q13 Glatt, Karen A.
1992
5 p. 348-348
artikel
57 Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13 McDonald, M.T.
1993
5 p. 619-619
artikel
58 Dinucleotide repeat polymorphism at the human gene for the brainderived neurotrophic factor (BDNF) Pröschel, Michael
1992
5 p. 353-353
artikel
59 Dinucleotide repeat polymorphism at the NCAM locus Telatar, M.
1994
5 p. 842-842
artikel
60 Dinucleotide repeat polymorphism at Xq26.1 (DXS1114) Weber, C.
1993
5 p. 612-612
artikel
61 Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113) Weber, C.
1993
5 p. 612-612
artikel
62 Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p Todd, S.
1994
5 p. 841-841
artikel
63 Dinucleotide repeat polymorphism in the human estrogen receptor (ESR) gene Senno, L.del
1992
5 p. 354-354
artikel
64 Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3) Carrozzo, Romeo
1993
5 p. 615-615
artikel
65 Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach Fairweather, Nicholas
1993
5 p. 607-608
artikel
66 Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci Borwne, D.L.
1994
5 p. 842-842
artikel
67 Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome—proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development Hastie, Nicholas D.
1992
5 p. 293-295
artikel
68 D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands Steinlein, Ortrud
1992
5 p. 325-329
artikel
69 ERRATUM Telenius, H.
1995
5 p. 974-974
artikel
70 Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor Farmer, Andrew A.
1994
5 p. 723-728
artikel
71 Five novel factor IX mutations in unrelated hemophilia B families Chen, Shi-Han
1993
5 p. 599-600
artikel
72 Five sequence tagged sites for human chromosome band 11 q23 Perry, H.
1993
5 p. 614-614
artikel
73 Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome Soussi-Yanicostas, Nadia
1993
5 p. 563-569
artikel
74 Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498 Li, H.
1994
5 p. 837-837
artikel
75 Frequencies of human keratin 10 alleles Mischke, Dietmar
1993
5 p. 618-618
artikel
76 Genomic organization of exons 22 to 25 of the dystrophin gene Bebchuk, Karen G.
1993
5 p. 593-594
artikel
77 Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21 Bessler, M.
1994
5 p. 751-757
artikel
78 High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes Florijn, Ralpha J.
1995
5 p. 831-836
artikel
79 Human cell mutants with very low mitochondrial DNA copy number (ρd) Vaillant, François
1995
5 p. 903-914
artikel
80 Identification of five novel mutations in the porphobilinogen deaminase gene S.Mgone, Charles
1994
5 p. 809-811
artikel
81 Improving the polymorphism content of the 3′ UTR of the human IGF2R gene Hol, F.A.
1992
5 p. 347-347
artikel
82 In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease Bernardi, F.
1993
5 p. 545-548
artikel
83 Isolation and mapping to 17p12 – 13 of the human homologous of the murine growth arrest specific Gas-3 gene Martinotti, Alessia
1992
5 p. 331-334
artikel
84 Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22 Lamour, Valérie
1993
5 p. 535-540
artikel
85 Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F Gasparini, Paolo
1993
5 p. 571-576
artikel
86 Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region Bergen, Arthur A.B.
1995
5 p. 931-935
artikel
87 Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p Francomano, Clalr A.
1994
5 p. 787-792
artikel
88 Mitochondrial DNA diversity in the Kuna Amerinds of Panamá Batista, Oriana
1995
5 p. 921-929
artikel
89 Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency Tajima, Toshihiro
1995
5 p. 969-971
artikel
90 Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted Weksberg, R.
1993
5 p. 549-556
artikel
91 Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease Maruyama, Hirofumi
1995
5 p. 807-812
artikel
92 Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes Heln, David W.
1994
5 p. 729-734
artikel
93 Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells Ried, Thomas
1992
5 p. 307-313
artikel
94 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease Angrist, Misha
1995
5 p. 821-830
artikel
95 Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene Danglot, Glséle
1995
5 p. 915-920
artikel
96 New human DNA polymorphisms submitted to the genome data base 1994
5 p. 843-849
artikel
97 New human DNA polymorphisms submitted to the genome data base 1993
5 p. 621-629
artikel
98 No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease Liddell, Malcolm B.
1995
5 p. 853-858
artikel
99 Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR Ellsworth, Darrell L.
1995
5 p. 937-944
artikel
100 Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription Suomalainen, Anu
1993
5 p. 525-534
artikel
101 Rapid detection of the hypertension-associated Met235→ Thr allele of the human angiotensinogen gene Russ, Andreas P.
1993
5 p. 609-610
artikel
102 Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews Glaser, Benjamin
1995
5 p. 879-886
artikel
103 SAM 1.1 and JOSH 4.4: two RFLPs within the human DCC gene Simons, J.W.
1992
5 p. 352-352
artikel
104 Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene Ravnlk-Glavač, Metka
1994
5 p. 801-807
artikel
105 Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region Robinson, Wendy P.
1995
5 p. 801-806
artikel
106 Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR product Wilson, A.G.
1992
5 p. 353-353
artikel
107 SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1) Lench, N.J.
1994
5 p. 827-828
artikel
108 SSCP/SacI polymorphism in the PAX5 gene Vorechovsky, I.
1994
5 p. 839-839
artikel
109 Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations Wedell, Anna
1993
5 p. 499-504
artikel
110 Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus Jansen, Gert
1995
5 p. 843-852
artikel
111 Taql polymorphism at the alanine: glyoxylate aminotransferase (AGXT) gene locus Rumsby, G.
1992
5 p. 350-350
artikel
112 Ten base pair duplication in exon 38 of the NF1 gene Legius, Eric
1994
5 p. 829-830
artikel
113 Tetranucleotide repeat polymorphism at the D8S307 locus Ward, Kenneth
1993
5 p. 615-615
artikel
114 Tetranucleotide repeat polymorphism at the D8S640 locus Lu, J.
1994
5 p. 839-839
artikel
115 The ‘colorizing’ of cytogenetics: is it ready for prime time? Ledbetter, David H.
1992
5 p. 297-299
artikel
116 The distribution of linkage disequilibrium over anonymous genome regions Peterson, Amy C.
1995
5 p. 887-894
artikel
117 The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation Rovlra, Ana
1994
5 p. 833-835
artikel
118 The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability Klink, Albrecht
1995
5 p. 869-878
artikel
119 The human Y chromosome homologue of XG: transcription of a naturally truncated gene Weller, Polly A.
1995
5 p. 859-868
artikel
120 The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene Willard, Huntington F.
1993
5 p. 497-498
artikel
121 The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes Kvaløy, K.
1994
5 p. 771-778
artikel
122 Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199) Graw, Sharon L.
1993
5 p. 614-614
artikel
123 Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene Perry, D.J.
1993
5 p. 618-618
artikel
124 Two Mspl polymorphisms within the APC gene Cottrell, S.
1992
5 p. 352-352
artikel
125 Two Taql polymorphisms at the human PGM1 locus Hollyoake, M.
1992
5 p. 354-354
artikel
126 X-linked liver glycogenosis: localization and isolation of a candidate gene Hendrickx, Jan
1993
5 p. 583-589
artikel
                             126 gevonden resultaten
 
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