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65 results found

no	title	author	magazine	year	volume	issue	page(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		1-2	p. 38-44	article
2	A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype	Maxwell, M.A.		1999		1-2	p. 38-44	article
3	A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC	Gross, E.		1999		1-2	p. 72-78	article
4	A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC	Gross, E.		1999		1-2	p. 72-78	article
5	A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers	Poduslo, S.E.		1999		1-2	p. 32-37	article
6	A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers	Poduslo, S.E.		1999		1-2	p. 32-37	article
7	A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution	Helwani, M.N.		1999		1-2	p. 112-115	article
8	A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution	Helwani, M.N.		1999		1-2	p. 112-115	article
9	A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16	Thomson, S.A.M.		1999		1-2	p. 171-173	article
10	A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16	Thomson, S.A.M.		1999		1-2	p. 171-173	article
11	A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex	Verma, Ram S.		1999		1-2	p. 183-184	article
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		1-2	p. 179-180	article
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		1-2	p. 179-180	article
14	A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome	Lertrit, P.		1999		1-2	p. 127-131	article
15	A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome	Lertrit, P.		1999		1-2	p. 127-131	article
16	BRCA1 mutations in African Americans	Panguluri, R.C.K.		1999		1-2	p. 28-31	article
17	BRCA1 mutations in African Americans	Panguluri, R.C.K.		1999		1-2	p. 28-31	article
18	Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines	Prince, P.R.		1999		1-2	p. 132-138	article
19	Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines	Prince, P.R.		1999		1-2	p. 132-138	article
20	Chromosome 9qh inversions may not be true inversions	Rivera, Horacio		1999		1-2	p. 181-182	article
21	Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation	Ida, H.		1999		1-2	p. 120-126	article
22	Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation	Ida, H.		1999		1-2	p. 120-126	article
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		1-2	p. 145-150	article
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		1-2	p. 145-150	article
25	Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin	Berry, Vanita		0000		1-2	p. 168-170	article
26	Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin	Berry, Vanita		1999		1-2	p. 168-170	article
27	CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia	Gennarelli, M.		1999		1-2	p. 165-167	article
28	CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia	Gennarelli, M.		1999		1-2	p. 165-167	article
29	CTLA4 is differently associated with autoimmune diseases in the Dutch population	Zhernakova, Alexandra		2005		1-2	p. 225	article
30	Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations	Thangaraj, Kumarasamy		2005		1-2	p. 223-224	article
31	Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations	Pillers, De-Ann M.		1999		1-2	p. 2-9	article
32	Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations	Pillers, De-Ann M.		1999		1-2	p. 2-9	article
33	FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes	Yeshaya, J.		1999		1-2	p. 86-97	article
34	FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes	Yeshaya, J.		1999		1-2	p. 86-97	article
35	Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations	Mehdi, H.		1999		1-2	p. 63-71	article
36	Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations	Mehdi, H.		1999		1-2	p. 63-71	article
37	Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes	Smith, M.		1999		1-2	p. 104-111	article
38	Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes	Smith, M.		1999		1-2	p. 104-111	article
39	Genomic structure and expression analysis of the spastic paraplegia gene, SPG7	Settasatian, C.		1999		1-2	p. 139-144	article
40	Genomic structure and expression analysis of the spastic paraplegia gene, SPG7	Settasatian, C.		1999		1-2	p. 139-144	article
41	Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma	von Deimling, F.		1999		1-2	p. 17-27	article
42	Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma	von Deimling, F.		1999		1-2	p. 17-27	article
43	Human Genetics announces Online First publication			1999		1-2	p. 1	article
44	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		1-2	p. 57-62	article
45	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		1-2	p. 57-62	article
46	Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency	Vaz, F.M.		1999		1-2	p. 157-161	article
47	Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency	Vaz, F.M.		1999		1-2	p. 157-161	article
48	Mutation analysis of hereditary multiple exostoses in the Chinese	Xu, L.		1999		1-2	p. 45-50	article
49	Mutation analysis of hereditary multiple exostoses in the Chinese	Xu, L.		1999		1-2	p. 45-50	article
50	NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C	Yamamoto, Toshiyuki		0000		1-2	p. 10-16	article
51	NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C	Yamamoto, Toshiyuki		1999		1-2	p. 10-16	article
52	Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells	Montpetit, A.		1999		1-2	p. 162-164	article
53	Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells	Montpetit, A.		1999		1-2	p. 162-164	article
54	Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer	Wang, Q.		1999		1-2	p. 79-85	article
55	Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer	Wang, Q.		1999		1-2	p. 79-85	article
56	The frequency of lysosomal storage diseases in The Netherlands	Poorthuis, B.J.H.M.		1999		1-2	p. 151-156	article
57	The frequency of lysosomal storage diseases in The Netherlands	Poorthuis, B.J.H.M.		1999		1-2	p. 151-156	article
58	The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)	Philibert, R.A.		1999		1-2	p. 174-178	article
59	The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)	Philibert, R.A.		1999		1-2	p. 174-178	article
60	The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene	Nicole, S.		1999		1-2	p. 98-103	article
61	The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene	Nicole, S.		1999		1-2	p. 98-103	article
62	Transcript identification on the CLN5 region on chromosome 13q22	Klockars, T.		1999		1-2	p. 51-56	article
63	Transcript identification on the CLN5 region on chromosome 13q22	Klockars, T.		1999		1-2	p. 51-56	article
64	X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset	Wichers, M.		1999		1-2	p. 116-119	article
65	X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset	Wichers, M.		1999		1-2	p. 116-119	article

65 results found

Koninklijke Bibliotheek - National Library of the Netherlands