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J J Heffron

Showing results (71-80 of 81) with videos related to

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BMJ (Clinical Research Ed.)|November 16, 1991
Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markersS J Healy, J J Heffron, M Lehane, et al.
Journal of Medical Genetics|January 1, 1996
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigreeJ M Healy, K A Quane, K E Keating, et al.
Journal of Medical Genetics|April 1, 1997
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypesK E Keating, L Giblin, P J Lynch, et al.
Nature|February 8, 1990
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2T V McCarthy, J M Healy, J J Heffron, et al.
Biochemical Society Transactions|May 1, 1995
Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core diseaseK A Quane, K E Keating, J M Healy, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 1999
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core diseaseP J Lynch, J Tong, M Lehane, et al.
Human Molecular Genetics|October 1, 1994
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigreesK E Keating, K A Quane, B M Manning, et al.
Human Molecular Genetics|March 1, 1994
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studiesK A Quane, K E Keating, B M Manning, et al.
Anesthesia and Analgesia|January 7, 2000
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibilityC P Baur, L Bellon, P Felleiter, et al.
American Journal of Human Genetics|April 29, 1998
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlationB M Manning, K A Quane, H Ording, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
BMJ (Clinical Research Ed.)|November 16, 1991
Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markersS J Healy, J J Heffron, M Lehane, et al.
Journal of Medical Genetics|January 1, 1996
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigreeJ M Healy, K A Quane, K E Keating, et al.
Journal of Medical Genetics|April 1, 1997
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypesK E Keating, L Giblin, P J Lynch, et al.
Nature|February 8, 1990
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2T V McCarthy, J M Healy, J J Heffron, et al.
Biochemical Society Transactions|May 1, 1995
Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core diseaseK A Quane, K E Keating, J M Healy, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 1999
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core diseaseP J Lynch, J Tong, M Lehane, et al.
Human Molecular Genetics|October 1, 1994
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigreesK E Keating, K A Quane, B M Manning, et al.
Human Molecular Genetics|March 1, 1994
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studiesK A Quane, K E Keating, B M Manning, et al.
Anesthesia and Analgesia|January 7, 2000
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibilityC P Baur, L Bellon, P Felleiter, et al.
American Journal of Human Genetics|April 29, 1998
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlationB M Manning, K A Quane, H Ording, et al.
Pageof 9