Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 7
Results: 32
Genetic studies and molecular structures: the dystrophin associated complex.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 865, doi. 10.1093/hmg/5.7.865
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- Article
cDNA Characterization and Chromosomal Mapping of Two Human Homologues of the Drosophila Dishevelled Polarity Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 953, doi. 10.1093/hmg/5.7.953
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Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 985, doi. 10.1093/hmg/5.7.985
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Localization of a Gene Responsible for Autosomal Recessive Demyelinating Neuropathy with Focally Folded Myelin Sheaths to Chromosome 11q23 by Homozygosity Mapping and Haplotype Sharing.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1051, doi. 10.1093/hmg/5.7.1051
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- Article
A Cysteine 3340 Substitution in the Dystroglycan-Binding Domain of Dystrophin Associated with Duchenne Muscular Dystrophy, Mental Retardation and Absence of the ERG b-Wave.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 973, doi. 10.1093/hmg/5.7.973
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Biochemical Evidence for Nuclear Gene Involvement in Phenotype of Non-Syndromic Deafness Associated with Mitochondrial 12S rRNA Mutation.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 963, doi. 10.1093/hmg/5.7.963
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- Article
Saturation Multipoint Linkage Mapping of Chromosome 6q in Type 1 Diabetes.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1071, doi. 10.1093/hmg/5.7.1071
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- Article
Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1035, doi. 10.1093/hmg/5.7.1035
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Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 933
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- Article
Encapsidated Adenovirus Minichromosomes Allow Delivery and Expression of a 14 kb Dystrophin cDNA to Muscle Cells.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 913, doi. 10.1093/hmg/5.7.913
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Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 945, doi. 10.1093/hmg/5.7.945
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- Article
Duplication of a Gene-Rich Cluster between 16p11.1 and Xq28: A Novel Pericentromeric-Directed Mechanism for Paralogous Genome Evolution.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 899, doi. 10.1093/hmg/5.7.899
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- Article
Dysfunction of the Orleans Reeler Gene Arising from Exon Skipping Due to Transposition of a Full-Length Copy of an Active L1 Sequence into the Skipped Exon.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 989, doi. 10.1093/hmg/5.7.989
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- Article
Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1001, doi. 10.1093/hmg/5.7.1001
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- Article
The Gene Responsible for Autosomal Dominant Doyne's Honeycomb Retinal Dystrophy (DHRD) Maps to Chromosome 2p16.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1055, doi. 10.1093/hmg/5.7.1055
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- Article
Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1023, doi. 10.1093/hmg/5.7.1023
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- Article
A Model for Testing Recombinogenic Sequences in the Mouse Germline.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 875, doi. 10.1093/hmg/5.7.875
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- Article
Identification of Three Mutations and Associated Haplotypes in the Protoporphyrinogen Oxidase Gene in South African Families with Variegate Porphyria.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 981, doi. 10.1093/hmg/5.7.981
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- Article
A Gene for Non-Syndromic Autosomal Dominant Progressive Postlingual Sensorineural Hearing Loss Maps to Chromosome 14q12–13.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1047, doi. 10.1093/hmg/5.7.1047
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Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 977, doi. 10.1093/hmg/5.7.977
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Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome: Implications for the Molecular Mechanisms of the Instability of the CAG Repeat.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 923, doi. 10.1093/hmg/5.7.923
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Frequent Deletion of Chromosome 1p Sequences in an Aggressive Histologic Subtype of Endometrial Cancer.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1017, doi. 10.1093/hmg/5.7.1017
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Analysis of Molecular Variance (Amova) of Y-Chromosome-Specific Microsatellites in Two Closely Related Human Populations.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1029, doi. 10.1093/hmg/5.7.1029
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Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 887, doi. 10.1093/hmg/5.7.887
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Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1061, doi. 10.1093/hmg/5.7.1061
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- Article
Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1011, doi. 10.1093/hmg/5.7.1011
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A New Variant of the β Subunit of the High-Affinity Receptor for Immunoglobulin E (FcεRI-β E237G): Associations with Measures of Atopy and Bronchial Hyper-Responsiveness.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 959, doi. 10.1093/hmg/5.7.959
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- Article
A Model of mRNA Splicing in Adult Lysosomal Storage Disease (Glycogenosis Type II).
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 995, doi. 10.1093/hmg/5.7.995
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The CTLA-4 Gene Region of Chromosome 2q33 Is Linked to, and Associated with, Type 1 Diabetes.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1075, doi. 10.1093/hmg/5.7.1075
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- Article
Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1065, doi. 10.1093/hmg/5.7.1065
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An RBM Homologue Maps to the Mouse Y Chromosome and is Expressed in Germ Cells.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 869, doi. 10.1093/hmg/5.7.869
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- Article
Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1043, doi. 10.1093/hmg/5.7.1043
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- Article