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Evaluation of clinical diagnostic criteria for neurofibromatosis 2

Neurology, 2002-12, Vol.59 (11), p.1759-1765

2002

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Predictors of the Risk of Mortality in Neurofibromatosis 2

American journal of human genetics, 2002-10, Vol.71 (4), p.715-723

2002

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Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

American journal of human genetics, 2004-08, Vol.75 (2), p.231-239

2004

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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Journal of Medical Genetics, 2005-07, Vol.42 (7), p.540-546

2005

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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Journal of medical genetics, 2003-06, Vol.40 (6), p.459-463

2003

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Further genotype - phenotype correlations in neurofibromatosis 2

Clinical genetics, 2010-02, Vol.77 (2), p.163-170

2010

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Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

Cancer research (Chicago, Ill.), 2018-02, Vol.78 (4_Supplement), p.PD1-05-PD1-05

2018

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Tumour MLH1 promoter region methylation testing is an effective pre-screen for Lynch Syndrome (HNPCC)

Journal of medical genetics, 2014-10, Vol.51 (12), p.789-796

2014

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E. coli Hemolysin E (HlyE, ClyA, SheA) : X-Ray Crystal Structure of the Toxin and Observation of Membrane Pores by Electron Microscopy

Cell, 2000-01, Vol.100 (2), p.265-276

2000

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Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.728-736

2006

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Multiple meningiomas: differential involvement of the NF2 gene in children and adults

Journal of medical genetics, 2005-01, Vol.42 (1), p.45-48

2005

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The glycemic load estimated from the glycemic index does not differ greatly from that measured using a standard curve in healthy volunteers

The Journal of nutrition, 2006-05, Vol.136 (5), p.1377-1381

2006

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Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Journal of medical genetics, 2004-07, Vol.41 (7), p.529-534

2004

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Stability of plasma and erythrocyte fatty acid composition during cold storage

Clinica chimica acta, 2002-07, Vol.321 (1), p.63-67

2002

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Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis

American journal of human genetics, 1998-09, Vol.63 (3), p.727-736

1998

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The effect of meals rich in thermally stressed olive and safflower oils on postprandial serum paraoxonase activity in patients with diabetes

European journal of clinical nutrition, 2001-11, Vol.55 (11), p.951-958

2001

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A study of the structure-activity relationship for diazaborine inhibition of Escherichia coli enoyl-ACP reductase

Journal of molecular biology, 2001-05, Vol.309 (1), p.171-180

2001

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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Human mutation, 2005-12, Vol.26 (6), p.540-549

2005

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Early identification of learning disorders helps children succeed

Pediatric annals, 2005-04, Vol.34 (4), p.328-329

Wallace, Amy Jo

2005

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Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation

Familial cancer, 2005-11, Vol.4 (4), p.321-322

2005

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Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Journal of medical genetics, 2003-10, Vol.40 (10), p.758-760

2003

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Determining the glycemic glucose equivalent value of foods in humans

Nutrition research (New York, N.Y.), 2006-02, Vol.26 (2), p.47-52

2006

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Variants in the cholesterol ester transfer protein and lipoprotein lipase genes are predictors of plasma cholesterol response to dietary change

Atherosclerosis, 2000-10, Vol.152 (2), p.327-336

2000

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Genetic factors associated with response of LDL subfractions to change in the nature of dietary fat

Atherosclerosis, 2000-04, Vol.149 (2), p.387-394

2000

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Evaluation of clinical diagnostic criteria for neurofibromatosis 2

Predictors of the Risk of Mortality in Neurofibromatosis 2

Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Further genotype - phenotype correlations in neurofibromatosis 2

Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

Tumour MLH1 promoter region methylation testing is an effective pre-screen for Lynch Syndrome (HNPCC)

E. coli Hemolysin E (HlyE, ClyA, SheA) : X-Ray Crystal Structure of the Toxin and Observation of Membrane Pores by Electron Microscopy

Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

The glycemic load estimated from the glycemic index does not differ greatly from that measured using a standard curve in healthy volunteers

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Stability of plasma and erythrocyte fatty acid composition during cold storage

Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis

The effect of meals rich in thermally stressed olive and safflower oils on postprandial serum paraoxonase activity in patients with diabetes

A study of the structure-activity relationship for diazaborine inhibition of Escherichia coli enoyl-ACP reductase

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Early identification of learning disorders helps children succeed

Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Determining the glycemic glucose equivalent value of foods in humans

Variants in the cholesterol ester transfer protein and lipoprotein lipase genes are predictors of plasma cholesterol response to dietary change

Genetic factors associated with response of LDL subfractions to change in the nature of dietary fat

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