Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 10
Results: 25
A Novel Germ Line Mutation in SOX9 Causes Familial Campomelic Dysplasia and Sex Reversal.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1625, doi. 10.1093/hmg/5.10.1625
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- Article
Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1533, doi. 10.1093/hmg/5.10.1533
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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547
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The Evolutionary Distribution and Structural Organization of the Homeobox-Containing Repeat D4Z4 Indicates a Functional Role for the Ancestral Copy in the FSHD Region.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1567, doi. 10.1093/hmg/5.10.1567
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- Article
Susceptibility Locus for Inflammatory Bowel Disease on Chromosome 16 has a Role in Crohn's disease, but Not in Ulcerative Colitis.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1679, doi. 10.1093/hmg/5.10.1679
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A High Resolution CEPH Crossover Mapping Panel and Integrated Map of Chromosome 11.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1631, doi. 10.1093/hmg/5.10.1631
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- Article
Idiopathic Torsion Dystonia: Assignment of a Gene to Chromosome 18p in a German Family With Adult Onset, Autosomal Dominant Inheritance and Purely Focal Distribution.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1673, doi. 10.1093/hmg/5.10.1673
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- Article
Mechanism of Ret Dysfunction by Hirschsprung Mutations Affecting Its Extracellular Domain.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1577, doi. 10.1093/hmg/5.10.1577
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Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1657, doi. 10.1093/hmg/5.10.1657
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Characterization of the Human Jumonji Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1637, doi. 10.1093/hmg/5.10.1637
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- Article
The Toxic Milk Mouse is a Murine Model of Wilson Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1619, doi. 10.1093/hmg/5.10.1619
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- Article
Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1559, doi. 10.1093/hmg/5.10.1559
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- Article
The Gene for Schnyder's Crystalline Corneal Dystrophy Maps to Human Chromosome 1p34.1–p36.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1667, doi. 10.1093/hmg/5.10.1667
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- Article
The Asp84Glu Variant of the Melanocortin 1 Receptor (MC1R) is Associated with Melanoma.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1663, doi. 10.1093/hmg/5.10.1663
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Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1689, doi. 10.1093/hmg/5.10.1689
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- Article
Mutant Fibrillin-1 Monomers Lacking EGF-Like Domains Disrupt Microfibril Assembly and Cause Severe Marfan Syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1581, doi. 10.1093/hmg/5.10.1581
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Characterization of the Human ABC Superfamily: Isolation and Mapping of 21 New Genes Using the Expressed Sequence Tags Database.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1649, doi. 10.1093/hmg/5.10.1649
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- Article
Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1685, doi. 10.1093/hmg/5.10.1685
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- Article
Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1539, doi. 10.1093/hmg/5.10.1539
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Functional Analysis in Saccharomyces Cerevisiae of Naturally Occurring Amino Acid Substitutions in Human Dihydrolipoamide Dehydrogenase.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1643, doi. 10.1093/hmg/5.10.1643
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- Article
HPRT-APRT-deficient Mice Are Not a Model for Lesch-Nyhan Syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1607, doi. 10.1093/hmg/5.10.1607
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cDNA Cloning and Chromosome Mapping of the Human Fe65 Gene: Interaction of the Conserved Cytoplasmic Domains of the Human β-amyloid Precursor Protein and Its Homologues with the Mouse Fe65 Protein.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1589
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- Article
Identification of a Transcriptional Enhancer Within Muscle Intron 1 of the Human Dystrophin Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1599, doi. 10.1093/hmg/5.10.1599
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- Article
Full Genetic Rescue of Adenosine Deaminase-Deficient Mice Through Introduction of the Human Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1523, doi. 10.1093/hmg/5.10.1523
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- Article
Expression of Lysosomal Acid Lipase Mutants Detected in Three Patients with Cholesteryl Ester Storage Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1611, doi. 10.1093/hmg/5.10.1611
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- Article