| 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
|
Journal description