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                             37 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region Malyarchuk, Boris A.
2002
111 1 p. 46-53
artikel
2 Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region Malyarchuk, Boris A.
2002
111 1 p. 46-53
artikel
3 A new locus for coeliac disease mapped to chromosome 15 in a population isolate Woolley, Niina
2002
111 1 p. 40-45
artikel
4 A new locus for coeliac disease mapped to chromosome 15 in a population isolate Woolley, Niina
2002
111 1 p. 40-45
artikel
5 Centromeric association of chromosome 16- and 18-derived microchromosomes Felbor, Ute
2002
111 1 p. 16-25
artikel
6 Centromeric association of chromosome 16- and 18-derived microchromosomes Felbor, Ute
2002
111 1 p. 16-25
artikel
7 Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15 Su, Li-Kuo
2002
111 1 p. 88-95
artikel
8 Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15 Su, Li-Kuo
2002
111 1 p. 88-95
artikel
9 DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding Rowntree, Rebecca
2002
111 1 p. 66-74
artikel
10 DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding Rowntree, Rebecca
2002
111 1 p. 66-74
artikel
11 Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts Leegwater, P.
2002
111 1 p. 114
artikel
12 Human Chromosomes, fourth edition Vogel, Walther
2002
111 1 p. 112
artikel
13 Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties Soria, José
2002
111 1 p. 59-65
artikel
14 Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties Soria, José
2002
111 1 p. 59-65
artikel
15 Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts Leegwater, P.
2002
111 1 p. 114
artikel
16 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers Friedl, Waltraut
2002
111 1 p. 108-111
artikel
17 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers Friedl, Waltraut
2002
111 1 p. 108-111
artikel
18 London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001 Fryns, J.-P.
2002
111 1 p. 113
artikel
19 London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001 Fryns, J.-P.
2002
111 1 p. 113
artikel
20 Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients Chen, Ying-Hwa
2002
111 1 p. 1-8
artikel
21 Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients Chen, Ying-Hwa
2002
111 1 p. 1-8
artikel
22 Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness Ouyang, Xiao
2002
111 1 p. 26-30
artikel
23 Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness Ouyang, Xiao
2002
111 1 p. 26-30
artikel
24 Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations Angius, Andrea
2002
111 1 p. 9-15
artikel
25 Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations Angius, Andrea
2002
111 1 p. 9-15
artikel
26 Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection Grimaldi, Rogério
2002
111 1 p. 102-104
artikel
27 Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection Grimaldi, Rogério
2002
111 1 p. 102-104
artikel
28 Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample Fullerton, Stephanie M.
2002
111 1 p. 75-87
artikel
29 Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample Fullerton, Stephanie M.
2002
111 1 p. 75-87
artikel
30 SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations Nath, Swapan K.
2002
111 1 p. 54-58
artikel
31 SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations Nath, Swapan K.
2002
111 1 p. 54-58
artikel
32 SNP identification, haplotype analysis, and parental origin of mutations in TSC2 Roberts, Penelope S.
2002
111 1 p. 96-101
artikel
33 SNP identification, haplotype analysis, and parental origin of mutations in TSC2 Roberts, Penelope S.
2002
111 1 p. 96-101
artikel
34 Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay Popp, Susanne
2002
111 1 p. 31-39
artikel
35 Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay Popp, Susanne
2002
111 1 p. 31-39
artikel
36 The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome Cerrato, Flavia
2002
111 1 p. 105-107
artikel
37 The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome Cerrato, Flavia
2002
111 1 p. 105-107
artikel
                             37 gevonden resultaten
 
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