Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 1
Results: 24
Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 115, doi. 10.1093/hmg/5.1.115
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- Article
A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 103, doi. 10.1093/hmg/5.1.103
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- Article
Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell Cybrids.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 123, doi. 10.1093/hmg/5.1.123
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- Article
Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 159, doi. 10.1093/hmg/5.1.159
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- Article
Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 95, doi. 10.1093/hmg/5.1.95
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- Article
A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 73
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- Article
Cloning and Developmental Expression Analysis of the Murine Homolog of the Spinocerebellar Ataxia Type 1 Gene (Sea1).
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 33, doi. 10.1093/hmg/5.1.33
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- Article
Bi-directional Dideoxy Fingerprinting (Bi-ddF): A Rapid Method for Quantitative Detection of Mutations in Genomic Regions of 300–600 bp.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 107, doi. 10.1093/hmg/5.1.107
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- Article
Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 131, doi. 10.1093/hmg/5.1.131
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- Article
Human Pseudoautosomal Boundary-like Sequences: Expression and Involvement in Evolutionary Formation of the Present-day Pseudoautosomal Boundary of Human Sex Chromosomes.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 23, doi. 10.1093/hmg/5.1.23
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- Article
An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 51, doi. 10.1093/hmg/5.1.51
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- Article
Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 69, doi. 10.1093/hmg/5.1.69
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- Article
Developmental Expression of the Fac Gene Correlates with Congenital Defects in Fanconi Anemia Patients.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 85, doi. 10.1093/hmg/5.1.85
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- Article
Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 165, doi. 10.1093/hmg/5.1.165
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- Article
Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 151, doi. 10.1093/hmg/5.1.151
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- Article
Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 81, doi. 10.1093/hmg/5.1.81
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- Article
In Vivo Amplification of the PAX3-FKHR and PAX7-FKHR Fusion Genes in Alveolar Rhabdomyosarcoma.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 15, doi. 10.1093/hmg/5.1.15
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- Article
Structural Analysis of the Minisatellite Present at the 3′ end of the Human Apolipoprotein B Gene: New Definition of the Alleles and Evolutionary Implications.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 61, doi. 10.1093/hmg/5.1.61
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- Article
A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22–23.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 155, doi. 10.1093/hmg/5.1.155
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- Article
Cloning and Characterization of a Murine Brain Specific Gene Bpx and Its Human Homologue Lying within the Xic Candidate Region.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 41, doi. 10.1093/hmg/5.1.41
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Mutations Revealed by Sequencing the 5′ Half of the Gene for Ataxia Telangiectasia.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 145, doi. 10.1093/hmg/5.1.145
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- Article
Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 169, doi. 10.1093/hmg/5.1.169
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- Article
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 1, doi. 10.1093/hmg/5.1.1
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- Article
Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 139
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- Article