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                             57 results found
no title author magazine year volume issue page(s) type
1 Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy Cartier, Nathalie
1993
2 11 p. 1949-1951
article
2 A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q Loftus, Stacie K.
1993
2 11 p. 1785-1792
article
3 A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA Dork, Thilo
1993
2 11 p. 1965-1966
article
4 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 Lederfein, Doron
1993
2 11 p. 1883-1888
article
5 A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones Takeda, Jun
1993
2 11 p. 1793-1798
article
6 Androgen receptor gene mutation in male breast cancer Lobaccaro, Jean-Marc
1993
2 11 p. 1799-1802
article
7 An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype Tarleton, Jack
1993
2 11 p. 1973-1974
article
8 A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1) Takakubo, Fumle
1993
2 11 p. 1961-1962
article
9 A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys – Drash syndrome Sakal, Aklra
1993
2 11 p. 1969-1970
article
10 A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375 Chen, Marisa A.
1993
2 11 p. 1971-1972
article
11 A Pstl polymorphism associated with CRYBA4 on human chromosome 22 BijIsma, E.K.
1993
2 11 p. 1984-1984
article
12 A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro Adeyemo, Oyewole
1993
2 11 p. 1809-1812
article
13 Author index 1993
2 11 p. 1989-1989
article
14 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 Well, Dominique
1993
2 11 p. 1853-1856
article
15 Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions Naylor, Jennifer
1993
2 11 p. 1773-1778
article
16 Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy Chen, Yue Qun
1993
2 11 p. 1841-1846
article
17 Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease Luo, Yin
1993
2 11 p. 1803-1808
article
18 construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection Sediacek, Zdenek
1993
2 11 p. 1865-1869
article
19 Corrigendum 1993
2 11 p. 1990-1609
article
20 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty Kremer, Hannie
1993
2 11 p. 1779-1783
article
21 Dinucleotide repeat polymorphism at the D19S386 locus lizuka, Masayoshi
1993
2 11 p. 1981-1981
article
22 Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus Moschonas, N.K.
1993
2 11 p. 1981-1981
article
23 Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene Martha, Aruna Devi
1993
2 11 p. 1982-1982
article
24 Dinucleotide repeat polymorphism in the INHBA gene Pang, Z.
1993
2 11 p. 1982-1982
article
25 Dinucleotide repeat polymorphism in the NEC2 gene Seo, T.S.
1993
2 11 p. 1983-1983
article
26 Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560 lizuka, Masayoshi
1993
2 11 p. 1980-1980
article
27 DNA-based immunization induces continuous secretion of hepatitis B surface antigen and high levels of circulating antibody Davis, Heather L.
1993
2 11 p. 1847-1851
article
28 Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae Dougherty, Kristiann M.
1993
2 11 p. 1835-1840
article
29 Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes Schmitt, Karin
1993
2 11 p. 1978-1978
article
30 Functional evidence for a breast cancer growth suppressor gene on chromosome 17 Casey, Graham
1993
2 11 p. 1921-1927
article
31 Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome Konlg, Anja
1993
2 11 p. 1967-1968
article
32 Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1 Keisell, David P.
1993
2 11 p. 1823-1828
article
33 Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis Passos-Bueno, M.Rita
1993
2 11 p. 1945-1947
article
34 Genomic organization of the gene encoding the p65 subunit of NF-xB: multiple variants of the p65 protein may be generated by alternative splicing Deloukas, Panaglotis
1993
2 11 p. 1895-1900
article
35 Identification of human chromosome 9 specific genes using exon amplification Church, Deanna M.
1993
2 11 p. 1915-1920
article
36 Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP) Bapat, Bharati
1993
2 11 p. 1957-1959
article
37 Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families Fuentes, J.–J.
1993
2 11 p. 1953-1955
article
38 Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) Bunge, Susanna
1993
2 11 p. 1871-1875
article
39 Localisation of a gene for Darier's disease Bashir, Rumaisa
1993
2 11 p. 1937-1939
article
40 Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria Hu, Frances L.
1993
2 11 p. 1857-1860
article
41 Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification Spelcher, Michael R.
1993
2 11 p. 1907-1914
article
42 Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains Tynan, Katherine
1993
2 11 p. 1813-1821
article
43 Myotonic dystrophy kinase is a component of neuromuscular junctions Ven, Peter F.M.van der
1993
2 11 p. 1889-1894
article
44 Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels Shen, Ming Hong
1993
2 11 p. 1861-1864
article
45 New human DNA polymorphisms submitted to the genome data base 1993
2 11 p. 1985-1987
article
46 Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes Williams, Briana J.
1993
2 11 p. 1929-1936
article
47 Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene Strautnleks, Sandra
1993
2 11 p. 1963-1964
article
48 PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245 lizuka, Masayoshi
1993
2 11 p. 1979-1979
article
49 Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients Lenk, Uwe
1993
2 11 p. 1877-1881
article
50 Polymorphisms and rare sequence variants at the ROM1 locus Bascom, Roger A.
1993
2 11 p. 1975-1977
article
51 Regional assignment of 19 X-linked ESTs Parrish, Julia E.
1993
2 11 p. 1901-1905
article
52 Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR lbraghimov-Beskrovnaya, O.
1993
2 11 p. 1983-1983
article
53 Tetranucleotide repeat polymorphism at the D8S306 locus Nelson, Lesa
1993
2 11 p. 1984-1984
article
54 The gene for Darier's disease maps to chromosome 12q23–q24.1 Craddock, Nick
1993
2 11 p. 1941-1943
article
55 The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization Karasawa, M.
1993
2 11 p. 1829-1834
article
56 The utrophin and dystrophin genes share similarities in genomic structure Pearce, Marcela
1993
2 11 p. 1765-1772
article
57 Yet another skin defect, Darier's disease, maps to chromosome 12q Buxton, Roger S.
1993
2 11 p. 1763-1764
article
                             57 results found
 
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