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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.195-205

2013

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

Annals of neurology, 2010-11, Vol.68 (5), p.717-726

2010

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

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The Sociolinguistics of Writing

1, 2013

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Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation-volvulus in the UK using computed tomography

Veterinary record, 2016-12, Vol.179 (24), p.626-626

2016

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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Neurology, 2012-04, Vol.78 (14), p.1100-1103

2012

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Late presentation of canine nasal tumours in a UK referral hospital andtreatment outcomes

Journal of small animal practice, 2013-07, Vol.54 (7), p.347

2013

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Late presentation of canine nasal tumours in a UK referral hospital and treatment outcomes

Journal of small animal practice, 2013-07, Vol.54 (7), p.347-353

2013

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Patent Fundamentals for Scientists and Engineers

3rd edition, 2012

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Interfamilial phenotypic heterogeneity in SMARD1

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.193-195

2009

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Understanding the Complex Role of a Hospice Spiritual Counselor

American journal of hospice & palliative medicine, 2014-06, Vol.31 (4), p.353-355

Lillis, Bonnie S.

2014

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P61 The spectrum of genetic defects responsible for congenital fibre type disproportion

Neuromuscular disorders : NMD, 2011, Vol.21, p.S24-S24

2011

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P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.695-696

2011

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P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.691-691

2011

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O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.748-748

2011

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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.695-695

2011

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G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.636-636

2009

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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.694-694

2011

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G.P.13.07 Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.809-809

2008

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G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.556-557

2009

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G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.557-557

2009

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The transformative potential of the arts and culture in sustaining rural futures

Journal of rural studies, 2018-10, Vol.63, p.214-216

2018

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Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation‐volvulus using computed tomography

Veterinary record, 2016-12, Vol.179 (24), p.626-626

2016

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A scholar's guide to getting published in English: critical choices and practical strategies

1, 2013

Volltextzugriff (PDF)

Global academic publishing: policies, perspectives and pedagogies

1st ed., 2017

Volltextzugriff (PDF)

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

The Sociolinguistics of Writing

Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation-volvulus in the UK using computed tomography

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Late presentation of canine nasal tumours in a UK referral hospital andtreatment outcomes

Late presentation of canine nasal tumours in a UK referral hospital and treatment outcomes

Patent Fundamentals for Scientists and Engineers

Interfamilial phenotypic heterogeneity in SMARD1

Understanding the Complex Role of a Hospice Spiritual Counselor

P61 The spectrum of genetic defects responsible for congenital fibre type disproportion

P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations

P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience

O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

G.P.13.07 Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene

The transformative potential of the arts and culture in sustaining rural futures

Pyloric localisation in 57 dogs of breeds susceptible to gastric dilatation‐volvulus using computed tomography

A scholar's guide to getting published in English: critical choices and practical strategies

Global academic publishing: policies, perspectives and pedagogies

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