Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 11
Results: 19
A 94 kb Genomic Sequence 3′ to the Murine Xist Gene Reveals an AT Rich Region Containing a New Testis Specific Gene Tsx.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1713, doi. 10.1093/hmg/5.11.1713
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- Article
The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 Which Escapes X-inactivation and Has Related Sequences on Yq11.2.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1695, doi. 10.1093/hmg/5.11.1695
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- Article
Oligonucleotide Probes for Alpha Satellite DNA Variants Can Distinguish Homologous Chromosomes by FISH.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1793, doi. 10.1093/hmg/5.11.1793
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- Article
An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1727, doi. 10.1093/hmg/5.11.1727
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- Article
Immunology of Gene Therapy with Adenoviral Vectors in Mouse Skeletal Muscle.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1703, doi. 10.1093/hmg/5.11.1703
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- Article
Alternate Promoters and Alternate Splicing of Human Tenascin-X, a Gene with 5′ and 3′ Ends Buried in Other Genes.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1749, doi. 10.1093/hmg/5.11.1749
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- Article
Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1767, doi. 10.1093/hmg/5.11.1767
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- Article
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I).
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1733, doi. 10.1093/hmg/5.11.1733
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- Article
Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1801, doi. 10.1093/hmg/5.11.1801
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- Article
Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1777, doi. 10.1093/hmg/5.11.1777
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- Article
Mutation of the Pancreatic Islet Inward Rectifier Kir6.2 Also Leads to Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1809, doi. 10.1093/hmg/5.11.1809
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- Article
A Novel Heteroplasmic tRNAleu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1835
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- Publication type:
- Article
A Repeated Element in the Regulatory Region of the MNK Gene and Its Deletion in A Patient With Occipital Horn Syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1737, doi. 10.1093/hmg/5.11.1737
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- Article
A Novel Human Homologue of Yeast Nucleosome Assembly Protein, 65 kb Centromeric to the p57KIP2 Gene, is Biallelically Expressed in Fetal and Adult Tissues.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1743
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- Publication type:
- Article
A Gene Transcribed from the Bidirectional ATM Promoter Coding for a Serine Rich Protein: Amino Acid Sequence, Structure and Expression Studies.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1785, doi. 10.1093/hmg/5.11.1785
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- Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841
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- Article
Mutation Rate Heterogeneity and the Generation of Allele Diversity at the Human Minisatellite MS205 (D16S309).
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1823, doi. 10.1093/hmg/5.11.1823
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- Article
Network Analysis of Human Y Microsatellite Haplotypes.
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- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1759, doi. 10.1093/hmg/5.11.1759
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- Article
Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1813, doi. 10.1093/hmg/5.11.1813
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- Article