Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             39 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('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
artikel
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
artikel
3 A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis Olson, Timothy M.
1995
4 9 p. 1677-1679
artikel
4 A muscle-specific DNase I-like gene in human Xq28 Parrish, Julia E.
1995
4 9 p. 1557-1564
artikel
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
artikel
6 Author index 1995
4 9 p. 1697-1697
artikel
7 Candidate regions for a testicular cancer susceptibility gene Leahy, Michael G.
1995
4 9 p. 1551-1555
artikel
8 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia Wang, Qing
1995
4 9 p. 1603-1607
artikel
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
artikel
10 Cloning and characterization of alternatively spliced isoforms of Dp71 Richard C., Austin
1995
4 9 p. 1475-1483
artikel
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
artikel
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
artikel
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
artikel
14 Familial non-specific dementia maps to chromosome 3 Brown, Jerry
1995
4 9 p. 1625-1628
artikel
15 Identification of two new KCNA1 mutations in episodic ataxia/myokymia families Browne, D.L.
1995
4 9 p. 1671-1672
artikel
16 Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency Tassara, Carla
1995
4 9 p. 1693-1695
artikel
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
artikel
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
artikel
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
artikel
20 Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q Kelsell, Rosemary E.
1995
4 9 p. 1653-1656
artikel
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
artikel
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
artikel
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
artikel
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
artikel
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
artikel
26 p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer Williamson, Magall P.
1995
4 9 p. 1569-1577
artikel
27 Population genetics of trinucleotide repeat polymorphisms Watkins, W.S.
1995
4 9 p. 1485-1491
artikel
28 Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat Schmitt, Ina
1995
4 9 p. 1619-1624
artikel
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
artikel
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
artikel
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
artikel
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
artikel
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
artikel
34 Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism Quan, Franklin
1995
4 9 p. 1681-1684
artikel
35 The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q M.Serratosa, José
1995
4 9 p. 1657-1663
artikel
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
artikel
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
artikel
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
artikel
39 The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene Kovacs, Dora M.
1995
4 9 p. 1527-1533
artikel
                             39 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland