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Results: 1-11 |
Results: 11
PROMM - THE EXPANDING PHENOTYPE - A FAMILY WITH PROXIMAL MYOPATHY, MYOTONIA AND DEAFNESS
Authors: PHILLIPS MF ROGERS MT BARNETSON R BRAUN C HARLEY HG MYRING J STEVENS D WILES CM HARPER PS
Citation: Mf. Phillips et al., PROMM - THE EXPANDING PHENOTYPE - A FAMILY WITH PROXIMAL MYOPATHY, MYOTONIA AND DEAFNESS, Neuromuscular disorders, 8(7), 1998, pp. 439-446
MITOCHONDRIAL-DNA DOES NOT APPEAR TO INFLUENCE THE CONGENITAL ONSET TYPE OF MYOTONIC-DYSTROPHY
Authors: POULTON J HARLEY HG DASMAHAPATRA J BROWN GK POTTER CG SYKES B
Citation: J. Poulton et al., MITOCHONDRIAL-DNA DOES NOT APPEAR TO INFLUENCE THE CONGENITAL ONSET TYPE OF MYOTONIC-DYSTROPHY, Journal of Medical Genetics, 32(9), 1995, pp. 732-735
EVIDENCE FOR MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: SHAW AM BARNETSON RA PHILLIPS MF HARPER PS HARLEY HG
Citation: Am. Shaw et al., EVIDENCE FOR MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS, Journal of Medical Genetics, 32(2), 1995, pp. 145-145
ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM-GENE CARRIERS
Authors: PHILLIPS MF SHAW AM BARNETSON RA SHAW DJ HEATH D BECK L HARPER PS HARLEY HG
Citation: Mf. Phillips et al., ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM-GENE CARRIERS, Journal of Medical Genetics, 32(2), 1995, pp. 151-151
CHANGES IN THE LEVEL OF EXPRESSION OF A PROTEIN RELATED TO THE MYOTONIC-DYSTROPHY GENE AND THE CORRELATION OF EXPRESSION WITH THE SIZE OR CTG REPEAT EXPANSION
Authors: BREWSTER BS HARLEY HG MUNTONI F DUBOWITZ V HARPER PS STRONG PN
Citation: Bs. Brewster et al., CHANGES IN THE LEVEL OF EXPRESSION OF A PROTEIN RELATED TO THE MYOTONIC-DYSTROPHY GENE AND THE CORRELATION OF EXPRESSION WITH THE SIZE OR CTG REPEAT EXPANSION, American journal of human genetics, 57(4), 1995, pp. 1367-1367
GENOMIC ORGANIZATION AND TRANSCRIPTIONAL UNITS AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: SHAW DJ MCCURRACH M RUNDLE SA HARLEY HG CROW SR SOHN R THIRION JP HAMSHERE MG BUCKLER AJ HARPER PS HOUSMAN DE BROOK JD
Citation: Dj. Shaw et al., GENOMIC ORGANIZATION AND TRANSCRIPTIONAL UNITS AT THE MYOTONIC-DYSTROPHY LOCUS, Genomics, 18(3), 1993, pp. 673-679
THE DM MUTATION - DIAGNOSTIC APPLICATIONS IN THE FINNISH POPULATION
Authors: NOKELAINEN P SHELBOURNE P SHAW D BROOK JD HARLEY HG JOHNSON K SOMER H SAVONTAUS ML PELTONEN L
Citation: P. Nokelainen et al., THE DM MUTATION - DIAGNOSTIC APPLICATIONS IN THE FINNISH POPULATION, Clinical genetics, 43(4), 1993, pp. 190-195
CATARACT AND MYOTONIC-DYSTROPHY - THE ROLE OF MOLECULAR DIAGNOSIS
Authors: REARDON W MACMILLAN JC MYRING J HARLEY HG RUNDLE SA BECK L HARPER PS SHAW DJ
Citation: W. Reardon et al., CATARACT AND MYOTONIC-DYSTROPHY - THE ROLE OF MOLECULAR DIAGNOSIS, British journal of ophthalmology, 77(9), 1993, pp. 579-583
MYOTONIC-DYSTROPHY FAMILIES WHICH LACK AND EXPANDED TRIPLET REPEAT - PHENOCOPY OR NEW MUTATION
Authors: SHAW AM BARNETSON R PHILLIPS M ROBINSON DO KENNEDY CR KELLY K PORTEUS MEM SHAW DJ HARPER PS HARLEY HG
Citation: Am. Shaw et al., MYOTONIC-DYSTROPHY FAMILIES WHICH LACK AND EXPANDED TRIPLET REPEAT - PHENOCOPY OR NEW MUTATION, American journal of human genetics, 53(3), 1993, pp. 731-731
ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM GENE CARRIERS
Authors: HARLEY HG PHILLIPS M BARNETSON R SHAW AM MACMILLAN JC SHAW DJ HEATH D BECK L HARPER PS
Citation: Hg. Harley et al., ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM GENE CARRIERS, American journal of human genetics, 53(3), 1993, pp. 1730-1730
SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY
Authors: HARLEY HG RUNDLE SA MACMILLAN JC MYRING J BROOK JD CROW S REARDON W FENTON I SHAW DJ HARPER PS
Citation: Hg. Harley et al., SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY, American journal of human genetics, 52(6), 1993, pp. 1164-1174
Risultati: 1-11 |