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Author/Creator Stratton, Michael R

1. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Issue 4 (22nd January 2015)

Authors:
Corbett, Mark A; Dudding-Byth, Tracy; Crock, Patricia A; Botta, Elena; Christie, Louise M; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
269
Record Type:
Journal Article
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2. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. Issue 4 (25th January 2011)

Authors:
Slade, Ingrid; Bacchelli, Chiara; Davies, Helen; Murray, Anne; Abbaszadeh, Fatemeh; Hanks, Sandra; Barfoot, Rita; Burke, Amos; Chisholm, Julia; Hewitt, Martin; Jenkinson, Helen; King, Derek; Morland, Bruce; Pizer, Barry; Prescott, Katrina; Saggar, Anand; Side, Lucy; Traunecker, Heidi; Vaidya, Suc...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
273
Record Type:
Journal Article
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3. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009)

Authors:
Hynes, Kim; Tarpey, Patrick; Dibbens, Leanne M; Bayly, Marta A; Berkovic, Samuel F; Smith, Raffaella; Raisi, Zahyia Al; Turner, Samantha J; Brown, Natasha J; Desai, Tarishi D; Haan, Eric; Turner, Gillian; Christodoulou, John; Leonard, Helen; Gill, Deepak; Stratton, Michael R; Gecz, Jozef; Scheffe...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
211
Record Type:
Journal Article
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4. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Issue 7 (16th March 2007)

Authors:
Schwartz, Charles E; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J; Joseph, Sumy M; Jones, Julie R; Gecz, Josef; Stratto...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 7(2007)
Page Start:
472
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗