Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 9
Results: 39
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1697
- Publication type:
- Article
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1693
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- Publication type:
- Article
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA in patients with the MELAS phenotype.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1689
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- Publication type:
- Article
A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.
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- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1685
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- Publication type:
- Article
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1681
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- Publication type:
- Article
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1677
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- Publication type:
- Article
Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje Gsα gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1675
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- Publication type:
- Article
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1673
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- Publication type:
- Article
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1643
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- Publication type:
- Article
Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1633
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- Publication type:
- Article
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1629
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- Article
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1671
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- Publication type:
- Article
Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1649
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- Publication type:
- Article
Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1619
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- Publication type:
- Article
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1665
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- Publication type:
- Article
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1657
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- Publication type:
- Article
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1653
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- Publication type:
- Article
Familial non-specific dementia maps to chromosome 3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1625
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- Publication type:
- Article
The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1613
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- Publication type:
- Article
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1637
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- Publication type:
- Article
Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1609
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- Publication type:
- Article
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1603
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- Publication type:
- Article
The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1597
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- Publication type:
- Article
The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1591
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- Publication type:
- Article
Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1585
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- Publication type:
- Article
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1579
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- Publication type:
- Article
p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1569
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- Publication type:
- Article
Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1565
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- Publication type:
- Article
A muscle-specific DNase I-like gene in human Xq28.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1557
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- Publication type:
- Article
Candidate regions for a testicular cancer susceptibility gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1551
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- Publication type:
- Article
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1543
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- Publication type:
- Article
Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1535
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- Publication type:
- Article
The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1527
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- Publication type:
- Article
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1519
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- Publication type:
- Article
CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1509
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- Publication type:
- Article
A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1499
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- Publication type:
- Article
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1493
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- Publication type:
- Article
Population genetics of trinucleotide repeat polymorphisms.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1485
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- Publication type:
- Article
Cloning and characterization of alternatively spliced isoforms of Dp71.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1475
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- Publication type:
- Article