Publications by authors named "Deborah Ruddy"

13Publications

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Muscle Nerve 2014 Jun 2;49(6):845-57. Epub 2014 May 2.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK; Department of Genetics, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK; Department of Neurology and Neurophysiology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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http://discovery.ucl.ac.uk/1413688/1/mus24069.pdf
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http://doi.wiley.com/10.1002/mus.24069
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http://dx.doi.org/10.1002/mus.24069DOI Listing
June 2014

Pharmacists' knowledge, attitudes, and practices regarding influenza vaccination and treatment of pregnant women.

J Am Pharm Assoc (2003) 2012 Jan-Feb;52(1):43-51

Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY, USA.

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http://dx.doi.org/10.1331/JAPhA.2012.10141DOI Listing
May 2012

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Am J Med Genet A 2009 Aug;149A(8):1860-81

Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK.

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http://dx.doi.org/10.1002/ajmg.a.32708DOI Listing
August 2009

Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?

Clin Dysmorphol 2009 Jul;18(3):131-4

Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283202a45DOI Listing
July 2009