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22 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy	Bueno, M.Rita Passos		1995	4	7	p. 1163-1167	article
2	A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2	Kobayashi, Hisashi		1995	4	7	p. 1213-1216	article
3	A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame)	Matsuda, Miho		1995	4	7	p. 1187-1191	article
4	Author index			1995	4	7	p. 1241-1241	article
5	A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene	kruger, Warren D.		1995	4	7	p. 1155-1161	article
6	Corrigendum			1995	4	7	p. 1241-1241	article
7	Double mutant alleles: are they rare?	Savov, Alexey		1995	4	7	p. 1169-1171	article
8	Erratum			1995	4	7	p. 1241-1241	article
9	Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease	Takiyama, Y.		1995	4	7	p. 1137-1146	article
10	Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development	Schmitt, Ina		1995	4	7	p. 1173-1182	article
11	Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase	Koiwai, Osamu		1995	4	7	p. 1183-1186	article
12	Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability	Wöhrle, Doris		1995	4	7	p. 1147-1153	article
13	Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus	Kolluri, Rikki		1995	4	7	p. 1119-1126	article
14	Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions	Naylor, Jennifer A.		1995	4	7	p. 1217-1224	article
15	Localisation of a gene for chondrocalcinosis to chromosome 5p	Hughes, Anne E.		1995	4	7	p. 1225-1228	article
16	Mapping of genes predisposing to idiopathic generalized epilepsy	Zara, Federico		1995	4	7	p. 1201-1207	article
17	Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability	Park, Woo-Jin		1995	4	7	p. 1229-1233	article
18	Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene	Knappskog, Per M.		1995	4	7	p. 1209-1212	article
19	The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients	Schloesser, Manfred		1995	4	7	p. 1235-1237	article
20	The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells	Talbot, C.Conover Jr		1995	4	7	p. 1193-1199	article
21	Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis	Enayat, Z.E.		1995	4	7	p. 1239-1240	article
22	WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia	Derry, Jonathan M.J.		1995	4	7	p. 1127-1135	article

22 results found

Koninklijke Bibliotheek - National Library of the Netherlands