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Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Archives of disease in childhood, 2009-01, Vol.94 (1), p.55-58

2009

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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

European journal of pediatrics, 1997-07, Vol.156 (7), p.562-564

1997

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Raised serum amylase in patients with COVID-19 may not be associated with pancreatitis

British journal of surgery, 2021-04, Vol.108 (4), p.e152-e153

2021

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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular genetics and metabolism, 2009, Vol.96 (1), p.38-43

2009

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Localized cluster of nodules in childhood

Clinical and experimental dermatology, 2018-01, Vol.43 (1), p.88-90

2018

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Chronic inflammatory acantholytic dermatosis: a previously under‐recognized or emerging variant of Grover disease

Clinical and experimental dermatology, 2017-08, Vol.42 (6), p.683-685

2017

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Economic evaluation of a randomized clinical trial of haemodilution with cell salvage in aortic surgery

British journal of surgery, 2002-06, Vol.89 (6), p.731-736

2002

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Human molecular genetics, 1995-01, Vol.4 (1), p.1-8

1995

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Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum

Journal of medical genetics, 2011-10, Vol.48 (10), p.669-681

2011

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Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

European journal of pediatrics, 1998-08, Vol.157 (8), p.643-647

1998

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CAG repeat size and clinical presentation in Huntington's disease

Neurology, 1994-06, Vol.44 (6), p.1137

1994

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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Journal of medical genetics, 2004-02, Vol.41 (2), p.125-129

2004

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A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

Journal of medical genetics, 2006-09, Vol.43 (9), p.e46-e46

2006

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Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.157-163

2004

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Patterns of Genetic Variation in the Hypertension Candidate Gene GRK4: Ethnic Variation and Haplotype Structure

Annals of human genetics, 2006-01, Vol.70 (1), p.27-41

2006

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Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome

Clinical genetics, 2005-03, Vol.67 (3), p.252-257

2005

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Getting It Right First Time: the national survey of surgical site infection rates in NHS trusts in England

Annals of the Royal College of Surgeons of England, 2019-09, Vol.101 (7), p.463

2019

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Re: “Modification of protocol with one extra drop of endovascular cyanoacrylate improved closure rates in incompetent great saphenous veins”—time to rethink the instructions for use for VenaSeal™?

Phlebology, 2022-09, Vol.37 (8), p.616-617

2022

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Re: “Do we need another modality for truncal vein ablation?” – What about microwave as an endothermal device?

Phlebology, 2021-06, Vol.36 (5), p.414-415

2021

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Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Human mutation, 2013-06, Vol.34 (6), p.882-893

2013

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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Genetics in medicine, 2013-05, Vol.15 (5), p.388-394

2013

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Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

Human genetics, 1998-08, Vol.103 (2), p.199-203

1998

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A novel mutation in the mitochondrial tRNASer(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

Journal of medical genetics, 2006-09, Vol.43 (9), p.e46-e46

2006

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Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer

Cancer research (Chicago, Ill.), 2002-02, Vol.62 (4), p.972-976

2002

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Biochemical characterization of pectate lyases produced by fluorescent pseudomonads associated with spoilage of fresh fruits and vegetables

Journal of applied microbiology, 1997-07, Vol.83 (1), p.10-16

1997

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