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Bernadette M. Manning

University College Cork

7

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752

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Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation

1998 American Journal of Human Genetics
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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

1998 Human Mutation
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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

1997 BJA: British Journal of Anaesthesia
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Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1994 Human Molecular Genetics
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Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1994 Human Molecular Genetics
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Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

1994 Genomics
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Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1993 Nature Genetics
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Citations (305)