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Nick Thomas

Cardiff University
University of Wales

48

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Diagnosis of patients with heart failure with preserved ejection fraction in primary care: cohort study

2021 Esc Heart Failure
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Evaluating the performance of CaSSIS elevation data for geomorphological and geological analyses

2018
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Monash's Glen B. Deacon: 50 years and counting

2018 Chemistry in Australia
- Nick Thomas
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The Human Gene Mutation Database: 2008 update

2009 Genome Medicine
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Neurofibromatosis type 1: Its association with the Ras/MAPK pathway syndromes

2009 Journal of pediatric neurology
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Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA

2008 Clinical Genetics
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individuals with neurofibromatosis 1 Guidelines for the diagnosis and management of

2007
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individuals with Neurofibromatosis 1 (NF1) Guidelines for the diagnosis and management of

2007
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Single base-pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing†

2007 Human Mutation
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A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

2006 Journal of Medical Genetics
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