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Ryanodine receptor mutations in malignant hyperthermia and central core disease

Human mutation, 2000-05, Vol.15 (5), p.410-417

2000

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Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population

Calcified tissue international, 2002-07, Vol.71 (1), p.26-35

2002

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

Nature genetics, 1993-09, Vol.5 (1), p.51-55

1993

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Screening for asymptomatic celiac disease among patients referred for bone densitometry measurement

Bone (New York, N.Y.), 2003-12, Vol.33 (6), p.970-974

2003

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

American journal of human genetics, 1998-03, Vol.62 (3), p.599-609

1998

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Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population

Calcified tissue international, 2003-06, Vol.72 (6), p.651-658

2003

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Linkage of Familial Hibernian Fever to Chromosome 12p13

American journal of human genetics, 1998-06, Vol.62 (6), p.1446-1451

1998

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

British journal of anaesthesia : BJA, 1997-09, Vol.79 (3), p.332-337

1997

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Unusual causes of ovarian vein thrombosis as revealed by CT and sonography

American journal of roentgenology (1976), 1998-08, Vol.171 (2), p.487

1998

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

Human molecular genetics, 1994-03, Vol.3 (3), p.471-476

1994

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Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Human molecular genetics, 1994-10, Vol.3 (10), p.1855-1858

1994

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Testicular microlithiasis in a patient with a mediastinal germ cell tumour

Clinical radiology, 2000-08, Vol.55 (8), p.642-644

2000

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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

Genomics (San Diego, Calif.), 1994-09, Vol.23 (1), p.236-239

1994

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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred

Anesthesiology (Philadelphia), 1997-03, Vol.86 (3), p.620-626

1997

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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 haplotypes

Journal of medical genetics, 1997-04, Vol.34 (4), p.291-296

1997

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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

Human mutation, 1998, Vol.11 (1), p.45-50

1998

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Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever

Journal of medical genetics, 1998-05, Vol.35 (5), p.432-434

1998

Volltextzugriff (PDF)

Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree

Journal of medical genetics, 1996-01, Vol.33 (1), p.18-24

1996

Volltextzugriff (PDF)

The prevalence of coeliac disease among female subjects having bone densitometry

Irish journal of medical science, 2002-07, Vol.171 (3), p.145-147

2002

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Association of NOD2 with Crohn's Disease in a homogenous Irish population

European journal of human genetics : EJHG, 2003-03, Vol.11 (3), p.237-244

2003

Volltextzugriff (PDF)

Investigation of the Genetic Inuence of the OPG, VDR (Fok1), and COLIA1 Sp1 Polymorphisms on BMD in the Irish Population

Calcified tissue international, 2002-07, Vol.71 (1), p.26

2002

Volltextzugriff (PDF)

Pele's tears and spheres: Examples from Kilauea Iki

Earth and planetary science letters, 2012-06, Vol.333-334, p.171-180

2012

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Ranking welding intensity in pyroclastic deposits

Bulletin of volcanology, 2005-02, Vol.67 (2), p.129-143

2005

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COVID-19 in forensic psychiatry settings: The unique vulnerability of patients in secure services

European psychiatry, 2021-04, Vol.64 (S1), p.S375-S375

2021

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Welding: insights from high-temperature analogue experiments

Journal of volcanology and geothermal research, 2005-04, Vol.142 (1), p.67-87

2005

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Pedigree
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Genetics & Heredity
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Male
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Malignant Hyperthermia - Genetics
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Malignant Hyperthermia
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Molecular Sequence Data
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Adult
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Anesthesia
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Anesthesia. Intensive Care Medicine. Transfusions. Cell Therapy And Gene Therapy
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Calcium Channels - Genetics
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Muscle Proteins - Genetics
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Ryanodine Receptor Calcium Release Channel
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Ryanodine receptor mutations in malignant hyperthermia and central core disease

Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population

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

Screening for asymptomatic celiac disease among patients referred for bone densitometry measurement

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

Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population

Linkage of Familial Hibernian Fever to Chromosome 12p13

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

Unusual causes of ovarian vein thrombosis as revealed by CT and sonography

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

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Testicular microlithiasis in a patient with a mediastinal germ cell tumour

Mutation Screening of the RYR1 Gene in Malignant Hyperthermia: Detection of a Novel Tyr to Ser Mutation in a Pedigree with Associated Central Cores

Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred

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 haplotypes

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever

Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree

The prevalence of coeliac disease among female subjects having bone densitometry

Association of NOD2 with Crohn's Disease in a homogenous Irish population

Investigation of the Genetic Inuence of the OPG, VDR (Fok1), and COLIA1 Sp1 Polymorphisms on BMD in the Irish Population

Pele's tears and spheres: Examples from Kilauea Iki

Ranking welding intensity in pyroclastic deposits

COVID-19 in forensic psychiatry settings: The unique vulnerability of patients in secure services

Welding: insights from high-temperature analogue experiments

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