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47 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A de novo deletion in FMR1 in a patient with developmental delay	Gu, Yanghong		1994	3	9	p. 1705-1706	article
2	A dinucleotide repeat polymorphism at the D9S749 locus	Brown, G.M.		1994	3	9	p. 1713-1713	article
3	A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen	Narcisi, Paolo		1994	3	9	p. 1617-1620	article
4	A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease	Paganl, Franco		1994	3	9	p. 1605-1609	article
5	A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males	Nakahori, Y.		1994	3	9	p. 1709-1709	article
6	Amino acid polymorphism (Gly209Ser) in the ACADS gene	Kristensen, M.J.		1994	3	9	p. 1711-1711	article
7	A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy	Consevage, M.W.		1994	3	9	p. 1716-1716	article
8	A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa	Dunnill, M.G.S.		1994	3	9	p. 1693-1694	article
9	Assignment of a locus for dominantly inherited venous malformations to chromosome 9p	Boon, Laurence M.		1994	3	9	p. 1583-1587	article
10	A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene	Brunner, Han G.		1994	3	9	p. 1561-1564	article
11	Author index			1994	3	9	p. 1715-1715	article
12	Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions	Petrukhin, Konstantin		1994	3	9	p. 1647-1656	article
13	Deletion of the ferrochelatase gene in a patient with protoporphyria	Magness, Scott T.		1994	3	9	p. 1695-1697	article
14	Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians	Simard, Jacques		1994	3	9	p. 1689-1691	article
15	Dinucleotide repeat polymorphism at D14S542	Carey, M.L.		1994	3	9	p. 1712-1712	article
16	Dinucleotide repeat polymorphism in the human IL1A gene	Epplen, C.		1994	3	9	p. 1710-1710	article
17	Dystroglycan: brain localisation and chromosome mapping in the mouse	C.Górecki, Darlusz		1994	3	9	p. 1589-1597	article
18	Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene	Paffenholz, Ralner		1994	3	9	p. 1703-1704	article
19	Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations	Byck, Susan		1994	3	9	p. 1675-1677	article
20	Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients	Stella, Alessandro		1994	3	9	p. 1687-1688	article
21	Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia	Sanchez, Roclo		1994	3	9	p. 1639-1645	article
22	G/T polymorphism in CRYA2 gene	Ashworth, A.		1994	3	9	p. 1712-1712	article
23	HindIll RFLP in the human CD53 gene on 1p13	Gallego, M.I.		1994	3	9	p. 1711-1711	article
24	Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype	Rautenstrauβ, Bernd		1994	3	9	p. 1701-1702	article
25	Identification of genes within CpG-enriched DNA from human chromosome 4p16.3	John, Rosallnd M.		1994	3	9	p. 1611-1616	article
26	Instructions to Authors			1994	3	9	p. 1717-1719	article
27	Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p	Hazan, Jamilé		1994	3	9	p. 1569-1573	article
28	Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q	Forsman, Kristina		1994	3	9	p. 1621-1625	article
29	Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping	Hillaire, Dominique		1994	3	9	p. 1657-1661	article
30	MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region	Smith, Matthijs J.		1994	3	9	p. 1575-1582	article
31	Microsatellite repeat polymorphism at the D16S366 locus	Schultz, E.A.		1994	3	9	p. 1713-1713	article
32	Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)	Bonthron, David T.		1994	3	9	p. 1627-1631	article
33	Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype	Okamoto, Nobuhiko		1994	3	9	p. 1565-1568	article
34	Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus	Faà, V.		1994	3	9	p. 1685-1686	article
35	Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination	Sherman, Stephanie L.		1994	3	9	p. 1529-1535	article
36	Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia	Orimo, Hideo		1994	3	9	p. 1683-1684	article
37	Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis	Zhou, Jianhua		1994	3	9	p. 1599-1603	article
38	Precursor arrays for triplet repeat expansion at the fragile X locus	Hirst, Mark C.		1994	3	9	p. 1553-1560	article
39	p53 tagged sites from human genomic DNA	Tokino, Takashi		1994	3	9	p. 1537-1542	article
40	Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13	de Fatima, Maria		1994	3	9	p. 1663-1673	article
41	Separation anxiety: the etiology of nondisjunction in flies and people	Hawley, R.Scott		1994	3	9	p. 1521-1528	article
42	Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation	Snow, Karen		1994	3	9	p. 1543-1551	article
43	SSC polymorphisms in interleukin genes	Borish, L.		1994	3	9	p. 1710-1710	article
44	The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21	Tonin, Patricia		1994	3	9	p. 1679-1682	article
45	The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient	Pritchard-Jones, K.		1994	3	9	p. 1633-1637	article
46	Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21	lizuka, Masayoshi		1994	3	9	p. 1707-1708	article
47	X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32	Orth, Ulrike		1994	3	9	p. 1699-1700	article

47 results found

Koninklijke Bibliotheek - National Library of the Netherlands