Browsing publications by Dr Helen Griffin

Newcastle AuthorsTitleYear
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Shona Bennett
Dr Simon Zwolinksi
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
Dr Angela Pyle
Dr Helen Griffin
Dr Michael Keogh
Dr Mauro Santibanez Koref
Professor Patrick Chinnery
et al.
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation2013
Professor Judith Goodship
Dr Darroch Hall
Dr Ana Topf
Valentina Mamasoula
Dr Helen Griffin
et al.
A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot2012
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
Dr Gavin Hudson
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy2012
Professor Rita Horvath
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
et al.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy2012
Dr Sophie Hambleton
Dr David McDonald
Dr Helen Griffin
Angela Grainger
Dr Louise Reynard
et al.
Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II2012
Professor Matthew Collin
Dr Rachel Dickinson
Dr Muz Haniffa
Dr Naomi McGovern
Dr Helen Griffin
et al.
Evolution of Dendritic Cell, Monocyte B and NK Lymphoid (DCML) deficiency; a human primary immunodeficiency arising from GATA-2 mutation2012
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Hannah Elliott
Professor Volker Straub
Professor Patrick Chinnery
et al.
Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure2012
Dr Venetia Bigley
Dr Rachel Dickinson
Dr Andrew Gennery
Dr Helen Griffin
Dr Muz Haniffa
et al.
Human dendritic cell deficiency2012
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