Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 12
Results: 30
Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1989, doi. 10.1093/hmg/5.12.1989
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- Article
Identification of Non-Amplifying CYP21 Genes When Using PCR-Based Diagnosis of 21-Hydroxylase Deficiency in Congenital Adrenal Hyperplasia (CAH) Affected Pedigrees.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2039, doi. 10.1093/hmg/5.12.2039
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- Article
Mapping of DFN2 to Xq22.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2055, doi. 10.1093/hmg/5.12.2055
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- Article
ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1899, doi. 10.1093/hmg/5.12.1899
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- Article
An Extended Region of Biallelic Gene Expression and Rodent-Human Synteny Downstream of the Imprinted H19 Gene on Chromosome 11p15.5.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1931, doi. 10.1093/hmg/5.12.1931
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- Article
Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1909, doi. 10.1093/hmg/5.12.1909
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- Article
Imprinting Mutation in the Beckwith-Wiedemann Syndrome Leads to Biallelic IGF2 expression through an H19-Independent Pathway.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2027, doi. 10.1093/hmg/5.12.2027
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- Article
Human Huntingtin Derived from YAC Transgenes Compensates for Loss of Murine Huntingtin by Rescue of the Embryonic Lethal Phenotype.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1875, doi. 10.1093/hmg/5.12.1875
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Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1997, doi. 10.1093/hmg/5.12.1997
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- Article
Linkage of the Gene for the Triple A Syndrome to Chromosome 12q13 Near the Type II Keratin Gene Cluster.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2061, doi. 10.1093/hmg/5.12.2061
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- Article
Molecular and Biochemical Analysis of Protective Protein/Cathepsin A Mutations: Correlation with Clinical Severity in Galactosialidosis.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1977, doi. 10.1093/hmg/5.12.1977
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- Article
Unequal Interchromosomal Rearrangements May Result in Elastin Gene Deletions Causing the Williams-Beuren syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1893, doi. 10.1093/hmg/5.12.1893
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- Article
Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1867, doi. 10.1093/hmg/5.12.1867
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- Article
De Novo Mutation of GDNF, Ligand for the RET/GDNFR-α Receptor Complex, in Hirschsprung Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2023, doi. 10.1093/hmg/5.12.2023
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- Article
Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1887, doi. 10.1093/hmg/5.12.1887
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- Article
The Human Autosomal Gene DAZLA: Testis Specificity and a Candidate for Male Infertility.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2013, doi. 10.1093/hmg/5.12.2013
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- Article
Identification of Two Mutations in a Compound Heterozygous Child with Dihydrolipoamide Dehydrogenase Deficiency.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1925, doi. 10.1093/hmg/5.12.1925
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- Article
Ataxia-Telangiectasia: Founder Effect Among North African Jews.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2033, doi. 10.1093/hmg/5.12.2033
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- Article
Cloning, Mapping and RNA Analysis of the Human Methionine Synthase Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1851
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A SPGY Copy Homologous to the Mouse Gene Dazla and the Drosophila Gene Boule is Autosomal and Expressed Only in the Human Male Gonad.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2005, doi. 10.1093/hmg/5.12.2005
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- Article
Linkage of Blepharophimosis Syndrome in a Large Indian Pedigree to Chromosome 7p.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2049, doi. 10.1093/hmg/5.12.2049
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- Article
Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1971, doi. 10.1093/hmg/5.12.1971
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- Article
The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1963, doi. 10.1093/hmg/5.12.1963
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Delivery of a Hammerhead Ribozyme Specifically Down-Regulates the Production of Fibrillin-1 by Cultured Dermal Fibroblasts.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1939, doi. 10.1093/hmg/5.12.1939
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Two Chimaeric Transcription Units Result from an Inversion Breaking Intron 1 of the Factor VIII Gene and a Region Reportedly Affected by Reciprocal Translocations in T-cell Leukaemia.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1945, doi. 10.1093/hmg/5.12.1945
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A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2019, doi. 10.1093/hmg/5.12.2019
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The Molecular Basis of Boston-Type Craniosynostosis: The Pro148→His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1915
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- Article
Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E).
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1953, doi. 10.1093/hmg/5.12.1953
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Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1921, doi. 10.1093/hmg/5.12.1921
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- Article
Defects in Human Methionine Synthase in cblG Patients.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1859, doi. 10.1093/hmg/5.12.1859
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- Article