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Results: 1-13 |
Results: 13
2 NOVEL MUTATIONS IN THE ARYLSULFATASE-A GENE ASSOCIATED WITH JUVENILE (R390Q) AND ADULT-ONSET (H397Y) METACHROMATIC LEUKODYSTROPHY
Authors: COULTERMACKIE MB GAGNIER L
Citation: Mb. Coultermackie et L. Gagnier, 2 NOVEL MUTATIONS IN THE ARYLSULFATASE-A GENE ASSOCIATED WITH JUVENILE (R390Q) AND ADULT-ONSET (H397Y) METACHROMATIC LEUKODYSTROPHY, Human mutation, 1998, pp. 254-256
ASPARTYLGLUCOSAMINURIA IN A CANADIAN FAMILY
Authors: GORDON BA RUPAR CA RIP JW HAUST MD COULTERMACKIE MB SCOTT E HINTON GG
Citation: Ba. Gordon et al., ASPARTYLGLUCOSAMINURIA IN A CANADIAN FAMILY, Clinical and investigative medicine, 21(3), 1998, pp. 114-123
METACHROMATIC LEUKODYSTROPHY IN 3 FAMILIES FROM NOVA-SCOTIA, CANADA -A RECURRING MUTATION IN THE ARYLSULFATASE-A GENE
Authors: COULTERMACKIE MB GAGNIER L BEIS MJ APPLEGARTH DA COLE DEC GORDON K LUDMAN MD
Citation: Mb. Coultermackie et al., METACHROMATIC LEUKODYSTROPHY IN 3 FAMILIES FROM NOVA-SCOTIA, CANADA -A RECURRING MUTATION IN THE ARYLSULFATASE-A GENE, Journal of Medical Genetics, 34(6), 1997, pp. 493-498
DNA-BASED DIAGNOSIS OF ARYLSULFATASE A DEFICIENCIES AS A SUPPLEMENT TO ENZYME ASSAY - A CASE IN POINT
Authors: COULTERMACKIE MB APPLEGARTH DA TOONE J VALLANCE H
Citation: Mb. Coultermackie et al., DNA-BASED DIAGNOSIS OF ARYLSULFATASE A DEFICIENCIES AS A SUPPLEMENT TO ENZYME ASSAY - A CASE IN POINT, Clinical biochemistry, 30(1), 1997, pp. 57-61
MULTIPLE METACHROMATIC LEUKODYSTROPHY ALLELES IN A CLINICALLY NORMAL-CHILD
Authors: COULTERMACKIE MB GAGNIER L BEIS MJ LUDMAN M
Citation: Mb. Coultermackie et al., MULTIPLE METACHROMATIC LEUKODYSTROPHY ALLELES IN A CLINICALLY NORMAL-CHILD, American journal of human genetics, 61(4), 1997, pp. 1450-1450
METACHROMATIC LEUKODYSTROPHY (MLD) IN A PATIENT WITH A CONSTITUTIONALRING CHROMOSOME-22
Authors: COULTERMACKIE MB RIP J LUDMAN MD BEIS J COLE DEC
Citation: Mb. Coultermackie et al., METACHROMATIC LEUKODYSTROPHY (MLD) IN A PATIENT WITH A CONSTITUTIONALRING CHROMOSOME-22, Journal of Medical Genetics, 32(10), 1995, pp. 787-791
ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY
Authors: COULTERMACKIE MB APPLEGARTH DA TOONE J VALLANCE H RIP J LUDMAN M BEIS J
Citation: Mb. Coultermackie et al., ARYLSULFATASE-A PSEUDODEFICIENCY IN FAMILIES AT RISK FOR METACHROMATIC LEUKODYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1014-1014
METACHROMATIC LEUKODYSTROPHY IN A CHILD WITH A RING CHROMOSOME-22
Authors: GAGNIER L COULTERMACKIE MB RIP J LUDMAN M BEIS J COLE DEC
Citation: L. Gagnier et al., METACHROMATIC LEUKODYSTROPHY IN A CHILD WITH A RING CHROMOSOME-22, American journal of human genetics, 57(4), 1995, pp. 1225-1225
SINGLE-BASE SEQUENCING FOR RAPID SCREENING OF PLASMIDS FOR INSERTS WITH KNOWN MUTATIONS AND CORRECT ORIENTATION
Authors: COULTERMACKIE MB
Citation: Mb. Coultermackie, SINGLE-BASE SEQUENCING FOR RAPID SCREENING OF PLASMIDS FOR INSERTS WITH KNOWN MUTATIONS AND CORRECT ORIENTATION, BioTechniques, 16(6), 1994, pp. 1026
MOLECULAR CHARACTERIZATION OF BOTH ALLELES IN AN UNUSUAL TAY-SACHS-DISEASE B1 VARIANT
Authors: COULTERMACKIE MB
Citation: Mb. Coultermackie, MOLECULAR CHARACTERIZATION OF BOTH ALLELES IN AN UNUSUAL TAY-SACHS-DISEASE B1 VARIANT, American journal of human genetics, 54(6), 1994, pp. 1126-1127
A GENETIC-STUDY OF NEUROFIBROMATOSIS TYPE-1 (NF1) IN SOUTH-WESTERN ONTARIO .2. A PCR BASED APPROACH TO MOLECULAR AND PRENATAL-DIAGNOSIS USING LINKAGE
Authors: RODENHISER DI AINSWORTH PJ COULTERMACKIE MB SINGH SM JUNG JH
Citation: Di. Rodenhiser et al., A GENETIC-STUDY OF NEUROFIBROMATOSIS TYPE-1 (NF1) IN SOUTH-WESTERN ONTARIO .2. A PCR BASED APPROACH TO MOLECULAR AND PRENATAL-DIAGNOSIS USING LINKAGE, Journal of Medical Genetics, 30(5), 1993, pp. 363-368
EVIDENCE FOR RECOMBINATION EVENTS DURING CDNA SYNTHESIS OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A
Authors: COULTERMACKIE MB AINSWORTH PJ
Citation: Mb. Coultermackie et Pj. Ainsworth, EVIDENCE FOR RECOMBINATION EVENTS DURING CDNA SYNTHESIS OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A, American journal of human genetics, 53(3), 1993, pp. 897-897
GLOBAL DNA METHYLATION AT CPG DINUCLEOTIDES WITHIN AND FLANKING THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
Authors: RODENHISER DI SINGH SM COULTERMACKIE MB JUNG JH
Citation: Di. Rodenhiser et al., GLOBAL DNA METHYLATION AT CPG DINUCLEOTIDES WITHIN AND FLANKING THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, American journal of human genetics, 53(3), 1993, pp. 1223-1223
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