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                             39 results found
no title author magazine year volume issue page(s) type
1 A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients E.Cleaver, James
1995
4 9 p. 1685-1687
article
2 A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia Reymer, Paul W.A.
1995
4 9 p. 1543-1549
article
3 A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis Olson, Timothy M.
1995
4 9 p. 1677-1679
article
4 A muscle-specific DNase I-like gene in human Xq28 Parrish, Julia E.
1995
4 9 p. 1557-1564
article
5 A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues Tsang, Patricia
1995
4 9 p. 1499-1507
article
6 Author index 1995
4 9 p. 1697-1697
article
7 Candidate regions for a testicular cancer susceptibility gene Leahy, Michael G.
1995
4 9 p. 1551-1555
article
8 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia Wang, Qing
1995
4 9 p. 1603-1607
article
9 CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization Tassone, Flora
1995
4 9 p. 1509-1518
article
10 Cloning and characterization of alternatively spliced isoforms of Dp71 Richard C., Austin
1995
4 9 p. 1475-1483
article
11 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli I.Goodman, Stephen
1995
4 9 p. 1493-1498
article
12 Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q Fukushima, Kunihiro
1995
4 9 p. 1643-1648
article
13 Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases LeGuern, E.
1995
4 9 p. 1673-1674
article
14 Familial non-specific dementia maps to chromosome 3 Brown, Jerry
1995
4 9 p. 1625-1628
article
15 Identification of two new KCNA1 mutations in episodic ataxia/myokymia families Browne, D.L.
1995
4 9 p. 1671-1672
article
16 Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency Tassara, Carla
1995
4 9 p. 1693-1695
article
17 Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3 Fukai, Kazuyoshi
1995
4 9 p. 1665-1669
article
18 Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population Baldwin, Clinton T.
1995
4 9 p. 1637-1642
article
19 Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) Loughlin, John
1995
4 9 p. 1649-1651
article
20 Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q Kelsell, Rosemary E.
1995
4 9 p. 1653-1656
article
21 Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping Nicole, Sophie
1995
4 9 p. 1633-1636
article
22 Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p Christodoulou, Kyproula
1995
4 9 p. 1629-1632
article
23 Multiple independent occurrence of the 3243 mutation in mitochondrial tRNAleuUUR in patients with the MELAS phenotype J.Morten, Karl
1995
4 9 p. 1689-1691
article
24 Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect? Gough, Stephen C.L.
1995
4 9 p. 1609-1612
article
25 Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje Gsα gene Shenker, Andrew
1995
4 9 p. 1675-1676
article
26 p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer Williamson, Magall P.
1995
4 9 p. 1569-1577
article
27 Population genetics of trinucleotide repeat polymorphisms Watkins, W.S.
1995
4 9 p. 1485-1491
article
28 Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat Schmitt, Ina
1995
4 9 p. 1619-1624
article
29 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen M.Christiano, Angela
1995
4 9 p. 1579-1583
article
30 Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata Barbaux, Sandrine
1995
4 9 p. 1565-1568
article
31 Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels Mancini, Francesco P.
1995
4 9 p. 1535-1542
article
32 Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes Rubinsztein, David C.
1995
4 9 p. 1585-1590
article
33 Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum P.Leeflang, Esther
1995
4 9 p. 1519-1526
article
34 Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism Quan, Franklin
1995
4 9 p. 1681-1684
article
35 The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q M.Serratosa, José
1995
4 9 p. 1657-1663
article
36 The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous Dresser, David W.
1995
4 9 p. 1613-1618
article
37 The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments Hart, Stephen L.
1995
4 9 p. 1597-1602
article
38 The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines Spelbrink, Johannes N.
1995
4 9 p. 1591-1596
article
39 The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene Kovacs, Dora M.
1995
4 9 p. 1527-1533
article
                             39 results found
 
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