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47 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation	Hule, M.L.		1994	3	12	p. 2231-2236	article
2	Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients	Miniou, Pierre		1994	3	12	p. 2093-2102	article
3	Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients	Lazar, Vladimir		1994	3	12	p. 2257-2260	article
4	A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors	Gutiérrez, Marina I.		1994	3	12	p. 2247-2248	article
5	Adhalin gene polymorphism	Allamand, V.		1994	3	12	p. 2269-2269	article
6	A dinucleotide repeat polymorphism in the MYBPH gene	Watkins, H.		1994	3	12	p. 2267-2267	article
7	A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval	Chaib, Hassan		1994	3	12	p. 2219-2222	article
8	A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration site	van der Drift, Pauline		1994	3	12	p. 2131-2136	article
9	AnEcoRI RFLP in human phenol sulfotransferase genes	Henkel, R. D.		1994	3	12	p. 2264-2264	article
10	A polymorphic dinucleotide repeat at the human HLA-F locus	Fullan, A.		1994	3	12	p. 2266-2266	article
11	A polymorphic dinucleotide repeat in the second intron of HUMCLC	Curran, M.		1994	3	12	p. 2264-2264	article
12	Author index			1994	3	12	p. 2271-2271	article
13	Author Index			1994	3	12	p. 2281-2281	article
14	Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene	Kostrzewa, Markus		1994	3	12	p. 2261-2262	article
15	A YAC clone map spanning 7.5 megabases of human chromosome band Xq28	Rogner, Ute C.		1994	3	12	p. 2137-2146	article
16	Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon	Peltola, Minna		1994	3	12	p. 2237-2242	article
17	Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition	Selelstad, Mark T.		1994	3	12	p. 2159-2161	article
18	DGGE polymorphism in intron 10 of MSH2, the HNPCC gene	Wijnen, J.		1994	3	12	p. 2268-2268	article
19	Dinucleotide repeat polymorphism adjacent to CDKN2	Herbst, R. A.		1994	3	12	p. 2265-2265	article
20	Dinucleotide repeat polymorphism at the human biglycan (BGN) locus	Just, W.		1994	3	12	p. 2268-2268	article
21	Dinucleotide repeat polymorphism at the human TYRP1 locus	Box, N.F.		1994	3	12	p. 2270-2270	article
22	Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13	Mochizuki, H.		1994	3	12	p. 2265-2265	article
23	Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)	Gregor, P.		1994	3	12	p. 2263-2263	article
24	Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia	Berg, Lutz-Peter		1994	3	12	p. 2147-2152	article
25	Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene	Mulligan, Lois M.		1994	3	12	p. 2163-2168	article
26	DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence	Squitieri, F.		1994	3	12	p. 2103-2114	article
27	Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor	Rees, Mark I.		1994	3	12	p. 2175-2179	article
28	Genetic heterogeneity in familial malignant melanoma	MacGeoch, Catriona		1994	3	12	p. 2195-2200	article
29	Hinfl polymorphism detected by FAEES3 cDNA	Bora, P.S.		1994	3	12	p. 2267-2267	article
30	Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity	Nöthen, Markus M.		1994	3	12	p. 2207-2212	article
31	Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels	Folz, Rodney J.		1994	3	12	p. 2251-2254	article
32	Identification of a polymorphism in exon 11 of the RET proto-oncogene	Bugalho, M.J.M.		1994	3	12	p. 2263-2263	article
33	Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population	Teng, Hul		1994	3	12	p. 2249-2250	article
34	Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations	Yamada, Yasukazu		1994	3	12	p. 2243-2245	article
35	Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3	Jones, Christopher		1994	3	12	p. 2123-2130	article
36	REPORTS	Robin, Nathaniel H.		1994	3	12	p. 2153-2158	article
37	Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix	Forlino, A.		1994	3	12	p. 2201-2206	article
38	Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma	Foster, Keith		1994	3	12	p. 2169-2173	article
39	Spectrum of small length germline mutations in the RB1 gene	Lohmann, Dletmar R.		1994	3	12	p. 2187-2193	article
40	Subject Index			1994	3	12	p. 2273-2273	article
41	Taql polymorphism of the human MXI1 gene	Bova, G. S.		1994	3	12	p. 2266-2266	article
42	The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter	Ritchie, Rachael J.		1994	3	12	p. 2115-2121	article
43	The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II	Hermans, Monique M.P.		1994	3	12	p. 2213-2218	article
44	The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia	Phillips, Michael S.		1994	3	12	p. 2181-2186	article
45	Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment	Paunlo, Tllna		1994	3	12	p. 2223-2229	article
46	Tri- and tetranucleotide repeat polymorphism in the LIPA gene	Aslanidis, C.		1994	3	12	p. 2269-2269	article
47	X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene	Fransen, Erik		1994	3	12	p. 2255-2256	article

47 results found

Koninklijke Bibliotheek - National Library of the Netherlands