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                             57 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('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
 artikel
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
 artikel
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
 artikel
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
 artikel
5 A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones Takeda, Jun
 1993
 2 11 p. 1793-1798
 artikel
6 Androgen receptor gene mutation in male breast cancer Lobaccaro, Jean-Marc
 1993
 2 11 p. 1799-1802
 artikel
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
 artikel
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
 artikel
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
 artikel
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
 artikel
11 A Pstl polymorphism associated with CRYBA4 on human chromosome 22 BijIsma, E.K.
 1993
 2 11 p. 1984-1984
 artikel
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
 artikel
13 Author index 1993
 2 11 p. 1989-1989
 artikel
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
 artikel
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
 artikel
16 Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy Chen, Yue Qun
 1993
 2 11 p. 1841-1846
 artikel
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
 artikel
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
 artikel
19 Corrigendum 1993
 2 11 p. 1990-1609
 artikel
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
 artikel
21 Dinucleotide repeat polymorphism at the D19S386 locus lizuka, Masayoshi
 1993
 2 11 p. 1981-1981
 artikel
22 Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus Moschonas, N.K.
 1993
 2 11 p. 1981-1981
 artikel
23 Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene Martha, Aruna Devi
 1993
 2 11 p. 1982-1982
 artikel
24 Dinucleotide repeat polymorphism in the INHBA gene Pang, Z.
 1993
 2 11 p. 1982-1982
 artikel
25 Dinucleotide repeat polymorphism in the NEC2 gene Seo, T.S.
 1993
 2 11 p. 1983-1983
 artikel
26 Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560 lizuka, Masayoshi
 1993
 2 11 p. 1980-1980
 artikel
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
 artikel
28 Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae Dougherty, Kristiann M.
 1993
 2 11 p. 1835-1840
 artikel
29 Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes Schmitt, Karin
 1993
 2 11 p. 1978-1978
 artikel
30 Functional evidence for a breast cancer growth suppressor gene on chromosome 17 Casey, Graham
 1993
 2 11 p. 1921-1927
 artikel
31 Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome Konlg, Anja
 1993
 2 11 p. 1967-1968
 artikel
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
 artikel
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
 artikel
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
 artikel
35 Identification of human chromosome 9 specific genes using exon amplification Church, Deanna M.
 1993
 2 11 p. 1915-1920
 artikel
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
 artikel
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
 artikel
38 Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) Bunge, Susanna
 1993
 2 11 p. 1871-1875
 artikel
39 Localisation of a gene for Darier's disease Bashir, Rumaisa
 1993
 2 11 p. 1937-1939
 artikel
40 Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria Hu, Frances L.
 1993
 2 11 p. 1857-1860
 artikel
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
 artikel
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
 artikel
43 Myotonic dystrophy kinase is a component of neuromuscular junctions Ven, Peter F.M.van der
 1993
 2 11 p. 1889-1894
 artikel
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
 artikel
45 New human DNA polymorphisms submitted to the genome data base 1993
 2 11 p. 1985-1987
 artikel
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
 artikel
47 Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene Strautnleks, Sandra
 1993
 2 11 p. 1963-1964
 artikel
48 PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245 lizuka, Masayoshi
 1993
 2 11 p. 1979-1979
 artikel
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
 artikel
50 Polymorphisms and rare sequence variants at the ROM1 locus Bascom, Roger A.
 1993
 2 11 p. 1975-1977
 artikel
51 Regional assignment of 19 X-linked ESTs Parrish, Julia E.
 1993
 2 11 p. 1901-1905
 artikel
52 Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR lbraghimov-Beskrovnaya, O.
 1993
 2 11 p. 1983-1983
 artikel
53 Tetranucleotide repeat polymorphism at the D8S306 locus Nelson, Lesa
 1993
 2 11 p. 1984-1984
 artikel
54 The gene for Darier's disease maps to chromosome 12q23–q24.1 Craddock, Nick
 1993
 2 11 p. 1941-1943
 artikel
55 The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization Karasawa, M.
 1993
 2 11 p. 1829-1834
 artikel
56 The utrophin and dystrophin genes share similarities in genomic structure Pearce, Marcela
 1993
 2 11 p. 1765-1772
 artikel
57 Yet another skin defect, Darier's disease, maps to chromosome 12q Buxton, Roger S.
 1993
 2 11 p. 1763-1764
 artikel
                             57 gevonden resultaten
 
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