Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 11
Results: 57
Corrigendum.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1990
- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1989
- Publication type:
- Article
New human DNA polymorphisms submitted to the genome data base.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1985
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- Article
A Pstl polymorphism associated with CRYBA4 on human chromosome 22.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1984
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- Article
Tetranucleotide repeat polymorphism at the D8S306 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1984
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- Article
Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1983
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- Article
Dinucleotide repeat polymorphism in the NEC2 gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1983
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- Article
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1982
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- Article
Dinucleotide repeat polymorphism in the INHBA gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1982
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- Article
Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1981
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- Article
Dinucleotide repeat polymorphism at the D19S386 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1981
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- Article
Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1980
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- Publication type:
- Article
PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1979
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- Publication type:
- Article
Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1978
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Polymorphisms and rare sequence variants at the ROM1 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1975
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- Article
An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1973
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- Publication type:
- Article
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1971
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- Publication type:
- Article
A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys – Drash syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1969
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- Publication type:
- Article
Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1967
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A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1965
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- Publication type:
- Article
Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1963
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- Article
A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1961
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- Publication type:
- Article
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1957
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- Article
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1953
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- Article
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1949
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- Article
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1945
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Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1773
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- Article
The gene for Darier's disease maps to chromosome 12q23–q24.1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1941
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Identification of human chromosome 9 specific genes using exon amplification.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1915
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Localisation of a gene for Darier's disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1937
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- Article
A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1883
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- Publication type:
- Article
Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1877
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- Publication type:
- Article
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1871
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- Publication type:
- Article
Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1929
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Functional evidence for a breast cancer growth suppressor gene on chromosome 17.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1921
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Androgen receptor gene mutation in male breast cancer.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1799
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Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1907
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Regional assignment of 19 X-linked ESTs.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1901
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Genomic organization of the gene encoding the p65 subunit of NF-xB: multiple variants of the p65 protein may be generated by alternative splicing.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1895
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Myotonic dystrophy kinase is a component of neuromuscular junctions.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1889
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A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1785
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A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1793
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- Publication type:
- Article
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1779
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- Publication type:
- Article
construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1865
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- Publication type:
- Article
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1861
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- Publication type:
- Article
Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1857
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- Publication type:
- Article
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1853
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- Publication type:
- Article
DNA-based immunization induces continuous secretion of hepatitis B surface antigen and high levels of circulating antibody.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1847
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- Article
Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1841
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- Publication type:
- Article
Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1835
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- Article