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Catherine DeVile

Great Ormond Street Hospital

31

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416

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Diagnostic algorithm for children presenting with epilepsia partialis continua.

2020 Epilepsia
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KIF1A‐related disorders in children: a wide spectrum of central and peripheral nervous system involvement

2020 Journal of The Peripheral Nervous System
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P.235Clinico-pathological characterisation of CACNA1S related congenital myopathy in children

2019 Neuromuscular Disorders
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Evaluating a therapy-led school and nursery outreach service for children with Osteogenesis Imperfecta

2019 Bone Abstracts
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Osteogenesis imperfecta type 15 with neurological phenotype associated with homozygous WNT1 mutation and uniparental isodisomy for chromosome 12

2019 Bone Abstracts
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Use of Lego® to explain genetic variations in type 1 collagen - a pilot study

2019 Bone Abstracts
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Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

2018 Neuromuscular Disorders
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Bilateral giant retinal tears in Osteogenesis Imperfecta

2018 BMC Medical Genetics
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Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy

2017 European Journal of Paediatric Neurology
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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

2017 Bone
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Citations (38)