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Results: 51-75/90
Authors:
JAMES CM
NEWCOMBE RG
HARPER PS
WILES CM
Citation: Cm. James et al., RISK ESTIMATES FOR DEVELOPING MOTOR-NEURON DISEASE IN FIRST-DEGREE RELATIVES, Clinical genetics, 47(1), 1995, pp. 13-16
Authors:
UPADHYAYA M
MAYNARD J
OSBORN M
HARPER PS
Citation: M. Upadhyaya et al., CHARACTERIZATION OF 25 NOVEL MUTATIONS IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, American journal of human genetics, 57(4), 1995, pp. 1331-1331
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
Authors:
LUNT PW
JARDINE PE
KOCH KC
MAYNARD J
OSBORN M
WILLIAMS M
HARPER PS
UPADHYAYA M
Citation: Pw. Lunt et al., EVIDENCE THAT ANTICIPATION IN 4Q35 FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY MAY BE MODIFYING THE AGE AT ONSET AS CONTROLLED BY D4F104S1 FRAGMENT SIZE - A GENE INTERACTION, American journal of human genetics, 57(4), 1995, pp. 1419-1419
Authors:
WOOD J
MACMILLAN JC
HARPER PS
JONES AL
Citation: J. Wood et al., SUBCELLULAR-DISTRIBUTION AND CHARACTERIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN HUMAN AND MOUSE-BRAIN, American journal of human genetics, 57(4), 1995, pp. 1473-1473
Authors:
HARPER PS
HOULIHAN GD
Citation: Ps. Harper et Gd. Houlihan, PRESYMPTOMATIC TESTING FOR HUNTINGTONS-DISEASE IN THE UK, American journal of human genetics, 57(4), 1995, pp. 1719-1719
Authors:
MACMILLAN JC
THOMAS P
WOOD J
JONES AL
HARPER PS
LOWENSTEIN PR
Citation: Jc. Macmillan et al., LIGHT-MICROSCOPIC ANALYSIS OF THE DISTRIBUTION OF THE HUNTINGTON DISEASE PROTEIN IN MURINE BRAIN, American journal of human genetics, 57(4), 1995, pp. 1823-1823
Authors:
HARPER PS
Citation: Ps. Harper, DNA MARKERS ASSOCIATED WITH HIGH VERSUS LOW IQ - ETHICAL CONSIDERATIONS, Behavior genetics, 25(2), 1995, pp. 197-198
Authors:
JAMES CM
HARPER PS
WILES CM
Citation: Cm. James et al., MOTOR-NEURON DISEASE - A STUDY OF PREVALENCE AND DISABILITY, Quarterly Journal of Medicine, 87(11), 1994, pp. 693-699
Authors:
UPADHYAYA M
SHAW DJ
HARPER PS
Citation: M. Upadhyaya et al., MOLECULAR-BASIS OF NEUROFIBROMATOSIS TYPE-1 (NF1) - MUTATION ANALYSISAND POLYMORPHISMS IN THE NF1 GENE, Human mutation, 4(2), 1994, pp. 83-101
Authors:
NEAL JW
FENTON I
MACMILLAN JC
TYLER A
BALL D
SHAW DJ
HARPER PS
SNELL RG
Citation: Jw. Neal et al., A STUDY COMPARING MUTATION TRIPLET REPEAT SIZE AND PHENOTYPES IN PATIENTS WITH HUNTINGTON DISEASE, Neurodegeneration, 3(1), 1994, pp. 73-77
Authors:
UPADHYAYA M
SARFARAZI M
MAYNARD J
FARNHAM J
JARDINE P
ALTHERR M
FRANTS R
LUNT P
HARPER PS
Citation: M. Upadhyaya et al., A HIGH-RESOLUTION GENETIC-MAP AND A PHYSICAL MAP OF FACIOSCAPULOHUMERAL DYSTROPHY (FSH) REGION ON 4Q35, Cytogenetics and cell genetics, 66(4), 1994, pp. 231-231
Authors:
MACMILLAN JC
HARPER PS
Citation: Jc. Macmillan et Ps. Harper, CLINICAL GENETICS IN NEUROLOGICAL DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 57(1), 1994, pp. 7-15
Authors:
HARPER PS
Citation: Ps. Harper, WORKSHOP ON INHERITED DISORDERS AND THEIR GENES IN DIFFERENT EUROPEANPOPULATIONS, OBERNAI, STRASBOURG, FRANCE, 26-30 NOVEMBER 1993, Journal of Medical Genetics, 31(4), 1994, pp. 346-347
Authors:
MACMILLAN JC
HARPER PS
Citation: Jc. Macmillan et Ps. Harper, THE CHARCOT-MARIE-TOOTH-SYNDROME - CLINICAL ASPECTS FROM A POPULATIONSTUDY IN SOUTH WALES, UK, Clinical genetics, 45(3), 1994, pp. 128-134
Authors:
JARDINE PE
KOCH MC
LUNT P
MAYNARD J
BATHKE KD
HARPER PS
UPADHYAYA M
Citation: Pe. Jardine et al., DE-NOVO FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY DEFINED BY DNA-PROBE P13E-11 (D4F104S1), Archives of Disease in Childhood, 71(3), 1994, pp. 221-227
Authors:
FENTONMAY J
BRADLEY DM
SIBERT JR
SMITH R
PARSONS EP
HARPER PS
CLARKE A
Citation: J. Fentonmay et al., SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY, Archives of Disease in Childhood, 70(6), 1994, pp. 551-552
Authors:
ASHIZAWA T
ANVRET M
BAIGET M
BARCELO JM
BRUNNER H
COBO AM
DALLAPICCOLA B
FENWICK RG
GRANDELL U
HARLEY H
JUNIEN C
KOCH MC
KORNELUK RG
LAVEDAN C
MIKI T
MULLEY JC
DEMUNAIN AL
NOVELLI G
ROSES AD
SELTZER WK
SHAW DJ
SMEETS H
SUTHERLAND GR
YAMAGATA H
HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY, American journal of human genetics, 54(3), 1994, pp. 414-423
Authors:
JAMES CM
HOULIHAN GD
SNELL RG
CHEADLE JP
HARPER PS
Citation: Cm. James et al., LATE-ONSET HUNTINGTONS-DISEASE - A CLINICAL AND MOLECULAR STUDY, Age and ageing, 23(6), 1994, pp. 445-448
Authors:
SNELL RG
MACMILLAN JC
CHEADLE JP
FENTON I
LAZAROU LP
DAVIES P
MACDONALD ME
GUSELLA JF
HARPER PS
SHAW DJ
Citation: Rg. Snell et al., RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE, Nature genetics, 4(4), 1993, pp. 393-397
Authors:
UPADHYAYA M
JARDINE P
MAYNARD J
FARNHAM J
SARFARAZI M
WIJMENGA C
HEWITT JE
FRANTS R
HARPER PS
LUNT PW
Citation: M. Upadhyaya et al., MOLECULAR ANALYSIS OF BRITISH FACIOSCAPULOHUMERAL DYSTROPHY FAMILIES FOR 4Q DNA REARRANGEMENTS, Human molecular genetics, 2(7), 1993, pp. 981-987
Authors:
SHEN MH
HARPER PS
UPADHYAYA M
Citation: Mh. Shen et al., NEUROFIBROMATOSIS TYPE-1 (NF1) - THE SEARCH FOR MUTATIONS BY PCR-HETERODUPLEX ANALYSIS ON HYDROLINK GELS, Human molecular genetics, 2(11), 1993, pp. 1861-1864
Authors:
HARPER PS
Citation: Ps. Harper, CLINICAL CONSEQUENCES OF ISOLATING THE GENE FOR HUNTINGTONS-DISEASE, BMJ. British medical journal, 307(6901), 1993, pp. 397-398
Authors:
HARPER PS
Citation: Ps. Harper, RESEARCH SAMPLES FROM FAMILIES WITH GENETIC-DISEASES - A PROPOSED CODE OF CONDUCT, BMJ. British medical journal, 306(6889), 1993, pp. 1391-1394
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