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Paul F. Munyard
Paul F. Munyard
Royal Cornwall Hospital
Muscle weakness
Polyhydramnios
HRAS
Differential diagnosis
Costello syndrome
3
Papers
23
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Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
2012
American Journal of Medical Genetics Part A
Emma Burkitt-Wright
Lisa Bradley
Jennifer Shorto
Vivienne McConnell
Caroline Gannon
Helen V. Firth
Soo-Mi Park
Angela DAmore
Paul F. Munyard
Peter D. Turnpenny
Amanda Charlton
Meredith Wilson
Bronwyn Kerr
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Citations (18)
HRAS p.Gly12Val mutations in four patients with neonatal lethal Costello syndrome
2011
Emma Burkitt Wright
Wright Emm Burkitt
Lisa Bradley
J Shorto
Vivienne McConnell
C Gannon
Lv Firth
Soo-Mi Park
A. D’Amore
Paul F. Munyard
Peter D. Turnpenny
Amanda Charlton
Meredith Wilson
Bronwyn Kerr
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Treatment of asphyxiated newborns with moderate hypothermia in routine clinical practice: how cooling is managed in the UK outside a clinical trial
2010
Archives of Disease in Childhood-fetal and Neonatal Edition
Michael W. Quinn
Paul F. Munyard
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Citations (5)
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