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                             63 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype Maxwell, M.A.
 1999
 105 1-2 p. 38-44
 artikel
2 A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype Maxwell, M.A.
 1999
 105 1-2 p. 38-44
 artikel
3 A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC Gross, E.
 1999
 105 1-2 p. 72-78
 artikel
4 A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC Gross, E.
 1999
 105 1-2 p. 72-78
 artikel
5 A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers Poduslo, S.E.
 1999
 105 1-2 p. 32-37
 artikel
6 A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers Poduslo, S.E.
 1999
 105 1-2 p. 32-37
 artikel
7 A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution Helwani, M.N.
 1999
 105 1-2 p. 112-115
 artikel
8 A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution Helwani, M.N.
 1999
 105 1-2 p. 112-115
 artikel
9 A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 Thomson, S.A.M.
 1999
 105 1-2 p. 171-173
 artikel
10 A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 Thomson, S.A.M.
 1999
 105 1-2 p. 171-173
 artikel
11 A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex Verma, Ram S.
 1999
 105 1-2 p. 183-184
 artikel
12 Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects Malin, R.
 1999
 105 1-2 p. 179-180
 artikel
13 Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects Malin, R.
 1999
 105 1-2 p. 179-180
 artikel
14 A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome Lertrit, P.
 1999
 105 1-2 p. 127-131
 artikel
15 A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome Lertrit, P.
 1999
 105 1-2 p. 127-131
 artikel
16 BRCA1 mutations in African Americans Panguluri, R.C.K.
 1999
 105 1-2 p. 28-31
 artikel
17 BRCA1 mutations in African Americans Panguluri, R.C.K.
 1999
 105 1-2 p. 28-31
 artikel
18 Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines Prince, P.R.
 1999
 105 1-2 p. 132-138
 artikel
19 Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines Prince, P.R.
 1999
 105 1-2 p. 132-138
 artikel
20 Chromosome 9qh inversions may not be true inversions Rivera, Horacio
 1999
 105 1-2 p. 181-182
 artikel
21 Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation Ida, H.
 1999
 105 1-2 p. 120-126
 artikel
22 Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation Ida, H.
 1999
 105 1-2 p. 120-126
 artikel
23 Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone Romey, M.-C.
 1999
 105 1-2 p. 145-150
 artikel
24 Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone Romey, M.-C.
 1999
 105 1-2 p. 145-150
 artikel
25 Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin Berry, Vanita
 0000
 105 1-2 p. 168-170
 artikel
26 Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin Berry, Vanita
 1999
 105 1-2 p. 168-170
 artikel
27 CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia Gennarelli, M.
 1999
 105 1-2 p. 165-167
 artikel
28 CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia Gennarelli, M.
 1999
 105 1-2 p. 165-167
 artikel
29 Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations Pillers, De-Ann M.
 1999
 105 1-2 p. 2-9
 artikel
30 Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations Pillers, De-Ann M.
 1999
 105 1-2 p. 2-9
 artikel
31 FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes Yeshaya, J.
 1999
 105 1-2 p. 86-97
 artikel
32 FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes Yeshaya, J.
 1999
 105 1-2 p. 86-97
 artikel
33 Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations Mehdi, H.
 1999
 105 1-2 p. 63-71
 artikel
34 Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations Mehdi, H.
 1999
 105 1-2 p. 63-71
 artikel
35 Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes Smith, M.
 1999
 105 1-2 p. 104-111
 artikel
36 Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes Smith, M.
 1999
 105 1-2 p. 104-111
 artikel
37 Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 Settasatian, C.
 1999
 105 1-2 p. 139-144
 artikel
38 Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 Settasatian, C.
 1999
 105 1-2 p. 139-144
 artikel
39 Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma von Deimling, F.
 1999
 105 1-2 p. 17-27
 artikel
40 Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma von Deimling, F.
 1999
 105 1-2 p. 17-27
 artikel
41 Human Genetics announces Online First publication 1999
 105 1-2 p. 1
 artikel
42 Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus Zito, I.
 1999
 105 1-2 p. 57-62
 artikel
43 Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus Zito, I.
 1999
 105 1-2 p. 57-62
 artikel
44 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Vaz, F.M.
 1999
 105 1-2 p. 157-161
 artikel
45 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Vaz, F.M.
 1999
 105 1-2 p. 157-161
 artikel
46 Mutation analysis of hereditary multiple exostoses in the Chinese Xu, L.
 1999
 105 1-2 p. 45-50
 artikel
47 Mutation analysis of hereditary multiple exostoses in the Chinese Xu, L.
 1999
 105 1-2 p. 45-50
 artikel
48 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C Yamamoto, Toshiyuki
 0000
 105 1-2 p. 10-16
 artikel
49 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C Yamamoto, Toshiyuki
 1999
 105 1-2 p. 10-16
 artikel
50 Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells Montpetit, A.
 1999
 105 1-2 p. 162-164
 artikel
51 Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells Montpetit, A.
 1999
 105 1-2 p. 162-164
 artikel
52 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer Wang, Q.
 1999
 105 1-2 p. 79-85
 artikel
53 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer Wang, Q.
 1999
 105 1-2 p. 79-85
 artikel
54 The frequency of lysosomal storage diseases in The Netherlands Poorthuis, B.J.H.M.
 1999
 105 1-2 p. 151-156
 artikel
55 The frequency of lysosomal storage diseases in The Netherlands Poorthuis, B.J.H.M.
 1999
 105 1-2 p. 151-156
 artikel
56 The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA) Philibert, R.A.
 1999
 105 1-2 p. 174-178
 artikel
57 The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA) Philibert, R.A.
 1999
 105 1-2 p. 174-178
 artikel
58 The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene Nicole, S.
 1999
 105 1-2 p. 98-103
 artikel
59 The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene Nicole, S.
 1999
 105 1-2 p. 98-103
 artikel
60 Transcript identification on the CLN5 region on chromosome 13q22 Klockars, T.
 1999
 105 1-2 p. 51-56
 artikel
61 Transcript identification on the CLN5 region on chromosome 13q22 Klockars, T.
 1999
 105 1-2 p. 51-56
 artikel
62 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset Wichers, M.
 1999
 105 1-2 p. 116-119
 artikel
63 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset Wichers, M.
 1999
 105 1-2 p. 116-119
 artikel
                             63 gevonden resultaten
 
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