Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 5
Results: 28
The human Y chromosome homologue of XG: transcription of a naturally truncated gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 859
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- Publication type:
- Article
No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 853
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- Article
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 783
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- Article
ERRATUM.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 974
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- Article
CORRIGENDUM.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 974
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- Article
CORRIGENDUM.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 974
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- Article
Author index.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 973
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- Article
Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 969
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- Article
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 963
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- Article
A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 959
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- Publication type:
- Article
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD).
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 951
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- Article
A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 945
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- Article
Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 937
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- Article
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 931
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- Article
Mitochondrial DNA diversity in the Kuna Amerinds of Panamá.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 921
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- Article
Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 915
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- Article
Human cell mutants with very low mitochondrial DNA copy number (ρ).
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 903
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- Article
Characterization of FMR1 proteins isolated from different tissues.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 895
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- Article
The distribution of linkage disequilibrium over anonymous genome regions.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 887
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- Article
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 879
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- Publication type:
- Article
The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 869
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- Publication type:
- Article
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 843
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- Article
A novel dystrophin isoform is required for normal retinal electrophysiology.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 837
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- Article
High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 831
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- Article
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 821
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Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 807
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Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 801
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- Article
A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 791
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- Article