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Results: 1-8 |
Results: 8
DEVELOPMENT AND EVALUATION OF AN INTEGRATED DNA ANALYSIS SYSTEM FOR DETECTING MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE
Authors: WESTON S GLADWIN AJ DOCTER E AMBROSE HJ ROBERTSON NH LITTLE S
Citation: S. Weston et al., DEVELOPMENT AND EVALUATION OF AN INTEGRATED DNA ANALYSIS SYSTEM FOR DETECTING MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE, European journal of human genetics, 6, 1998, pp. 4205-4205
LIMK1 HEMIZYGOSITY DOES NOT CONTRIBUTE TO THE WILLIAMS-SYNDROME COGNITIVE PROFILE
Authors: TASSABEHJI M GLADWIN AJ KARMILOFFSMITH A DONNAI D DENNIS N SPLITT M READ AP METCALFE K
Citation: M. Tassabehji et al., LIMK1 HEMIZYGOSITY DOES NOT CONTRIBUTE TO THE WILLIAMS-SYNDROME COGNITIVE PROFILE, Journal of Medical Genetics, 34, 1997, pp. 534-534
THE MUTATIONAL SPECTRUM IN TREACHER-COLLINS-SYNDROME REVEALS A PREDOMINANCE OF MUTATIONS THAT CREATE A PREMATURE-TERMINATION CODON
Authors: EDWARDS SJ GLADWIN AJ DIXON MJ
Citation: Sj. Edwards et al., THE MUTATIONAL SPECTRUM IN TREACHER-COLLINS-SYNDROME REVEALS A PREDOMINANCE OF MUTATIONS THAT CREATE A PREMATURE-TERMINATION CODON, American journal of human genetics, 60(3), 1997, pp. 515-524
POSITIONAL CLONING OF A GENE INVOLVED IN THE PATHOGENESIS OF TREACHER-COLLINS SYNDROME
Authors: DIXON J EDWARDS SJ GLADWIN AJ DIXON MJ LOFTUS SK BONNER CA KOPRIVNIKAR K WASMUTH JJ
Citation: J. Dixon et al., POSITIONAL CLONING OF A GENE INVOLVED IN THE PATHOGENESIS OF TREACHER-COLLINS SYNDROME, Nature genetics, 12(2), 1996, pp. 130-136
TREACHER-COLLINS-SYNDROME MAY RESULT FROM INSERTIONS, DELETIONS OR SPLICING MUTATIONS, WHICH INTRODUCE A TERMINATION CODON INTO THE GENE
Authors: GLADWIN AJ DIXON J LOFTUS SK EDWARDS S WASMUTH JJ HENNEKAM RCM DIXON MJ
Citation: Aj. Gladwin et al., TREACHER-COLLINS-SYNDROME MAY RESULT FROM INSERTIONS, DELETIONS OR SPLICING MUTATIONS, WHICH INTRODUCE A TERMINATION CODON INTO THE GENE, Human molecular genetics, 5(10), 1996, pp. 1533-1538
GENOMIC ORGANIZATION OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASE GENE - EXCLUSION FROM A CAUSATIVE ROLE IN THE PATHOGENESIS OF TREACHER-COLLINS SYNDROME/
Authors: GLADWIN AJ DIXON J LOFTUS SK WASMUTH JJ DIXON MJ
Citation: Aj. Gladwin et al., GENOMIC ORGANIZATION OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASE GENE - EXCLUSION FROM A CAUSATIVE ROLE IN THE PATHOGENESIS OF TREACHER-COLLINS SYNDROME/, Genomics, 32(3), 1996, pp. 471-473
CLONING OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASEGENE FROM THE TREACHER-COLLINS SYNDROME CANDIDATE REGION AT 5Q32-Q33.1
Authors: DIXON J LOFTUS SK GLADWIN AJ SCAMBLER PJ WASMUTH JJ DIXON MJ
Citation: J. Dixon et al., CLONING OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASEGENE FROM THE TREACHER-COLLINS SYNDROME CANDIDATE REGION AT 5Q32-Q33.1, Genomics, 26(2), 1995, pp. 239-244
A YAC CONTIG ENCOMPASSING THE TREACHER-COLLINS SYNDROME CRITICAL REGION AT 5Q31.3-32
Authors: DIXON J GLADWIN AJ LOFTUS SK RILEY JH PERVEEN R WASMUTH JJ ANAND R DIXON MJ
Citation: J. Dixon et al., A YAC CONTIG ENCOMPASSING THE TREACHER-COLLINS SYNDROME CRITICAL REGION AT 5Q31.3-32, American journal of human genetics, 55(2), 1994, pp. 372-378
Risultati: 1-8 |