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64 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein	Shoulders, Carol C.		1993	2	12	p. 2109-2116	article
2	A 14 bp deletion polymorphism in the HLA-G gene	Harrison, G.A.		1993	2	12	p. 2200-2200	article
3	A BstNI polymorphism at the BTK locus in Xq21.3 – Xq22	Hagemann, T.		1993	2	12	p. 2201-2201	article
4	A CA-repeat polymorphism near DXS418 (P122)	De Vosse, E.Van		1993	2	12	p. 2202-2202	article
5	A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene	Pérez-Casal, Margarita		1993	2	12	p. 2159-2161	article
6	A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease	Strautnleks, Sandra		1993	2	12	p. 2191-2192	article
7	A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype	Hofferbert, Sigrun		1993	2	12	p. 2167-2170	article
8	A large alteration in the human platelet glycoprotein Illa (integrin β3) gene associated with Glanzmann's thrombasthenia	Djaffar, Isabelle		1993	2	12	p. 2183-2185	article
9	A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites	Beckmann, Jacques S.		1993	2	12	p. 2019-2030	article
10	Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A	Valentijn, Linda J.		1993	2	12	p. 2143-2146	article
11	A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis	Rothnagel, Joseph A.		1993	2	12	p. 2147-2150	article
12	A new point mutation associated with mitochondrial encephalomyopathy	Morten, K.J.		1993	2	12	p. 2081-2087	article
13	A novel glycine to glutamic acid substitution at position 343 in the α2 chain of type I collagen in an individual with lethal osteogenesis imperfecta	Rose, Nicola J.		1993	2	12	p. 2175-2177	article
14	A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus — Merzbacher disease	Kurosawa, Kenjl		1993	2	12	p. 2187-2189	article
15	A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene	Braun, A.		1993	2	12	p. 2214-2214	article
16	An SspI polymorphism for the human DOPA decarboxylase (DDC) gene on chromosome 7p	Wang, Zhewu		1993	2	12	p. 2198-2198	article
17	A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIII (integrinβ3) Arg214 by Trp	Djaffar, Isabelle		1993	2	12	p. 2179-2180	article
18	Author index			1993	2	12	p. 2213-2214	article
19	Author index			1993	2	12	p. 2225-2233	article
20	CA-repeat polymorphism at the D22S430 locus adjacent to NF2	Sainz, Jesús		1993	2	12	p. 2203-2203	article
21	Characterization and localization of the Huntington disease gene product	Hoogeveen, André T.		1993	2	12	p. 2069-2073	article
22	Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region	Dittrich, Bärbel		1993	2	12	p. 1995-1999	article
23	Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster	Baroncini, C.		1993	2	12	p. 2151-2153	article
24	Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22	Pook, Mark A.		1993	2	12	p. 2129-2134	article
25	Dinucleotide repeat at the D15S129 locus	Richard, Isabelle		1993	2	12	p. 2199-2199	article
26	Dinucleotide repeat polymorphism at the GLUDP2 locus	Goulielmos, G.		1993	2	12	p. 2202-2202	article
27	Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus	Larget-Piet, D.		1993	2	12	p. 2201-2201	article
28	Dinucleotide repeat polymorphism at the locus D15S222	Fougerousse, Francoise		1993	2	12	p. 2200-2200	article
29	Dinucleotide repeat polymorphism at the PI locus	Worthington, J.		1993	2	12	p. 2203-2203	article
30	Dinucleotide repeat polymorphism in the 3′ non-coding region of the FLTI gene	Han, Hye-Jung		1993	2	12	p. 2204-2204	article
31	DXS997 localized to intron 48 of dystrophin	Saad, Fawzy A.		1993	2	12	p. 2199-2199	article
32	Dystrophin expression improves myofiber survival in mdx muscle following intramuscular plasmid DNA injection	Danko, Istvan		1993	2	12	p. 2055-2061	article
33	Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad	Bächner, Dletmar		1993	2	12	p. 2043-2050	article
34	Four dinucleotide repeat polymorphisms at the D7S804 locus	Graeber, Manuel B.		1993	2	12	p. 2195-2195	article
35	FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit	Deutekom, Judith C.T.Van		1993	2	12	p. 2037-2042	article
36	Functional imprinting and epigenetic modification of the human SNRPN gene	Glenn, Christopher C.		1993	2	12	p. 2001-2005	article
37	G to A polymorphism in the CACNLG gene	Dickers, Antonel		1993	2	12	p. 2198-2198	article
38	Heterozygous ‘null allele’ mutation in the human peripherin/RDS gene	Meins, M.		1993	2	12	p. 2181-2182	article
39	Human insulin-like growth factor type I and type II receptors are not imprinted	Ogawa, Osamu		1993	2	12	p. 2163-2165	article
40	Identification of a new splice site mutation (3849 +1G←A) in the intron 19 of the CFTR gene	Grell, Ignaz		1993	2	12	p. 2171-2172	article
41	In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene	Meitinger, Thomas		1993	2	12	p. 2173-2174	article
42	Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease	Halford, Stephanle		1993	2	12	p. 2099-2107	article
43	Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome	Aoyama, T.		1993	2	12	p. 2135-2140	article
44	Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients	Barth, Maria Lulza		1993	2	12	p. 2117-2121	article
45	Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene	Zühlke, Christine		1993	2	12	p. 2063-2067	article
46	Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene	Bulting, Karin		1993	2	12	p. 1991-1994	article
47	Mutations in the PAX6 gene in patients with hereditary aniridia	Davis, Alison		1993	2	12	p. 2093-2097	article
48	New human DNA polymorphisms submitted to the genome data base			1993	2	12	p. 2207-2211	article
49	Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis	Palau, Francisco		1993	2	12	p. 2031-2035	article
50	PCR detection of 9 polymorphisms in the WT1 gene	Tadokoro, Keiko		1993	2	12	p. 2205-2206	article
51	PCR detection of the TaqA RFLP at the DRD2 locus	Grandy, D.K.		1993	2	12	p. 2197-2197	article
52	Polymorphism in the human dopamine D4 receptor gene (DRD4) in Japanese detected by PCR	Inoue, Akira		1993	2	12	p. 2197-2197	article
53	Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias	Matilla, T.		1993	2	12	p. 2123-2128	article
54	Rapid screening for Tp53 mutations by temperature gradient gel electrophoresis: a comparison with SSCP analysis	B.Scholz, Roswitha		1993	2	12	p. 2155-2158	article
55	Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals	Fonknechten, Nuria		1993	2	12	p. 2141-2142	article
56	SOX3 is an X-linked gene related to SRY	Stevanovlć, Milena		1993	2	12	p. 2013-2018	article
57	Subject Index			1993	2	12	p. 2215-2224	article
58	The gene for Darier's desease maps to chromosome 12q23–q24.1	Craddock, N.		1993	2	12	p. 2214-2214	article
59	The human homolog of a candidate mouse t complex responder gene: conserved motifs and evolution with punctuated equilibria	Islam, Salim D.		1993	2	12	p. 2075-2079	article
60	The human SRY transcript	Clepet, Christian		1993	2	12	p. 2007-2012	article
61	The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours	Howard, Tammy K.		1993	2	12	p. 2089-2092	article
62	The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23	Pham-Dinh, Danielle		1993	2	12	p. 2051-2054	article
63	Thirteen dinucleotide repeat polymorphisms on chromosome 6	Orphanos, Vassilis		1993	2	12	p. 2196-2196	article
64	Twenty different alleles at the locus D5S683 on 5q23–31	Schönling, Jutta		1993	2	12	p. 2204-2204	article

64 results found

Koninklijke Bibliotheek - National Library of the Netherlands