Author/Creator: Delon, Isabelle - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Delon, Isabelle

1. Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation. Issue 6 (21st March 2016)

Authors:: Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Abbs, Stephen; Park, Soo‐Mi
Journal:: American journal of medical genetics
Issue:: Volume 170:Issue 6(2016)
Page Start:: 1608
Record Type:: Journal Article
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2. Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report. Issue 4 (April 2015)

Authors:: Taylor, Amy; Delon, Isabelle; Allinson, Kieren; Trotman, Jamie; Liu, Hongxiang; Abbs, Stephen; Tischkowitz, Marc
Journal:: Journal of neuropathology and experimental neurology
Issue:: Volume 74:Issue 4(2015:Apr.)
Page Start:
Record Type:: Journal Article
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3. Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome. Issue 4 (April 2015)

Authors:: Taylor, Amy; Delon, Isabelle; Allinson, Kieren; Trotman, Jamie; Liu, Hongxiang; Abbs, Stephen; Tischkowitz, Marc
Journal:: Journal of neuropathology and experimental neurology
Issue:: Volume 74:Issue 4(2015:Apr.)
Page Start:
Record Type:: Journal Article
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4. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Issue 7 (12th May 2017)

Authors:: Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Sparnon, Leanne; Simonic, Ingrid; Abbs, Stephen; Park, Soo‐Mi
Journal:: American journal of medical genetics
Issue:: Volume 173:Issue 7(2017)
Page Start:: 1931
Record Type:: Journal Article
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