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Record Type Journal Article Author/Creator Handley, Mark T.

1. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Issue 4 (11th March 2014)

Authors:
Handley, Mark T.; Mégarbané, André; Meynert, Alison M.; Brown, Stephen; Freyer, Elisabeth; Taylor, Martin S.; Jackson, Ian J.; Aligianis, Irene A.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 4(2014:Jul.)
Page Start:
319
Record Type:
Journal Article
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2. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013)

Authors:
Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada...
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
686
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗