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52 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A de novo mutation of the RET proto-oncogene in a patient with MEN 2A	Mulligan, Lois M.		1994	3	6	p. 1007-1008	article
2	A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis	Rosen, Daniel R.		1994	3	6	p. 981-987	article
3	A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene	Guilford, Parry		1994	3	6	p. 989-993	article
4	A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens	Agulnik, Alexander I.		1994	3	6	p. 873-878	article
5	A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17	Greenberg, Jacquie		1994	3	6	p. 915-918	article
6	A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy	Consevage, Michael W.		1994	3	6	p. 1025-1026	article
7	A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease	Meaney, Cathy		1994	3	6	p. 1019-1020	article
8	A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR	Schaedel, Charlotta		1994	3	6	p. 1001-1002	article
9	A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human	Agulnik, Alexander I.		1994	3	6	p. 879-884	article
10	A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)	Meyer-Kleine, Christof		1994	3	6	p. 1015-1016	article
11	Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?	Poulton, Joanna		1994	3	6	p. 947-951	article
12	A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis	Mandl, Marion		1994	3	6	p. 1009-1011	article
13	Author index			1994	3	6	p. 1033-1033	article
14	Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)	Arai, Eiko		1994	3	6	p. 937-939	article
15	Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications	Buiting, Karin		1994	3	6	p. 893-895	article
16	Dinucleotide repeat polymorphism at the DXS977 locus	Yan, D.		1994	3	6	p. 1030-1030	article
17	Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci	Chang, Y.-P.C.		1994	3	6	p. 1029-1029	article
18	Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis	Eiberg, Hans		1994	3	6	p. 977-980	article
19	Dsal polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCR	Rozet, J.-M.		1994	3	6	p. 1030-1030	article
20	DXS997 localized to intron 48 of dystrophin	Saad, F.A.		1994	3	6	p. 1033-1034	article
21	Four novel germ-line mutations in the APC gene detected by heteroduplex analysis	Hamzehloei, Tayebeh		1994	3	6	p. 1023-1024	article
22	Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia	Lorenz, Claudius		1994	3	6	p. 941-946	article
23	Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy	Passos-Bueno, M.R.		1994	3	6	p. 919-922	article
24	Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2	Ian, M.Tomlinson		1994	3	6	p. 853-860	article
25	Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype	Saxena, Richa		1994	3	6	p. 923-926	article
26	Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing	Savov, A.		1994	3	6	p. 1033-1034	article
27	Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin	Petreska, Lidija		1994	3	6	p. 999-1000	article
28	Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis	Esteban, Jesus		1994	3	6	p. 997-998	article
29	Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia	Ogasawara, Masahito		1994	3	6	p. 867-872	article
30	Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region	Schindelhauer, D.		1994	3	6	p. 1027-1027	article
31	Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families	Iles, D.E.		1994	3	6	p. 969-975	article
32	Missense mutation in the choroideremia gene	Donnelly, P.		1994	3	6	p. 1017-1017	article
33	Molecular genetic analysis of the 3p — syndrome	Phipps, Maude E.		1994	3	6	p. 903-908	article
34	Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients	Bunge, Susanna		1994	3	6	p. 861-866	article
35	Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)	Fairweather, N.		1994	3	6	p. 1033-1034	article
36	Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas	Sainz, Jesús		1994	3	6	p. 885-891	article
37	Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient	Nouspikel, Thierry		1994	3	6	p. 963-967	article
38	No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations	Rousseau, François		1994	3	6	p. 927-930	article
39	One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients	Tsukamoto, Hiroko		1994	3	6	p. 995-996	article
40	Polymorphisms in the keratin 8 gene detected by PCR	McLean, W.H.I.		1994	3	6	p. 1031-1031	article
41	Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit	Hansen, Lise Lotte		1994	3	6	p. 1021-1022	article
42	Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)	Gosden, John		1994	3	6	p. 931-936	article
43	Seven polymorphisms at the COL10A1 locus	Rash, B.		1994	3	6	p. 1032-1032	article
44	SSCP at the BTK locus	Vořechovský, I.		1994	3	6	p. 1031-1031	article
45	Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred	Piersall, Linda D.		1994	3	6	p. 1013-1014	article
46	The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb	Duclos, F.		1994	3	6	p. 909-914	article
47	The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24	Rampazzo, Alessandra		1994	3	6	p. 959-962	article
48	Three microsatellite polymorphisms at the recoverin locus on chromosome 17	Wiechmann, A.F.		1994	3	6	p. 1028-1028	article
49	Two complementation groups account for most cases of inherited MHC class II deficiency	Lisowska-Grospierre, Barbara		1994	3	6	p. 953-958	article
50	Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease	Tsujino, Seiichi		1994	3	6	p. 1005-1006	article
51	Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis	Romey, Marie-Catherine		1994	3	6	p. 1003-1004	article
52	TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12	Haire, Robert N.		1994	3	6	p. 897-901	article

52 results found

Koninklijke Bibliotheek - National Library of the Netherlands