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Author/Creator Hardy, Carol

1. Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. Issue 9 (28th June 2013)

Authors:
Dias, Renuka P; Nightingale, Peter; Hardy, Carol; Kirby, Gail; Tee, Louise; Price, Susan; MacDonald, Fiona; Barrett, Timothy G; Maher, Eamonn R
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 9(2013)
Page Start:
635
Record Type:
Journal Article
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4. Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia. Issue 7 (1st June 2017)

Authors:
Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu‐Wai‐Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian‐Hua; Chaussenot, Annabel; Nunes, Virginia; Marshal...
Journal:
Human mutation
Issue:
Volume 38:Issue 7(2017)
Page Start:
764
Record Type:
Journal Article
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5. 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) ↗