Publications by authors named "Robert McWilliam"

13Publications

Accuracy of Screening Tools for Pap Smears in General Practice.

J Innov Health Inform 2016 Sep 13;23(3):835. Epub 2016 Sep 13.

University of New South Wales Faculty of Medicine - Rural Clinical School.

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http://dx.doi.org/10.14236/jhi.v23i3.835DOI Listing
September 2016

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Neuromuscul Disord 2015 Feb 22;25(2):169-71. Epub 2014 Oct 22.

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140066
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http://dx.doi.org/10.1016/j.nmd.2014.10.005DOI Listing
February 2015

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Neuromuscul Disord 2014 Dec 30;24(12):1103-10. Epub 2014 Jul 30.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140061
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http://dx.doi.org/10.1016/j.nmd.2014.07.005DOI Listing
December 2014

A combination of Botulinum Toxin A therapy and Functional Electrical Stimulation in children with cerebral palsy--a pilot study.

Technol Health Care 2012 ;20(1):1-9

Bioengineering Unit, University of Strathclyde, Royal Hospital for Sick Children, Yorkhill Hospitals, Glasgow, UK.

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http://dx.doi.org/10.3233/THC-2011-0648DOI Listing
May 2012

Health-related quality-of-life and behavioural outcome in survivors of childhood meningitis.

Brain Inj 2011 30;25(13-14):1288-95. Epub 2011 Sep 30.

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, NHS Greater Glasgow & Clyde, Glasgow, Scotland, UK.

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http://dx.doi.org/10.3109/02699052.2011.613090DOI Listing
January 2012

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

Eur J Paediatr Neurol 2010 Jul 21;14(4):349-53. Epub 2009 Dec 21.

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Dalnair Street, Glasgow, G3 8SJ, UK.

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http://dx.doi.org/10.1016/j.ejpn.2009.11.001DOI Listing
July 2010

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Paediatric neurology training - a developing country perspective.

J Coll Physicians Surg Pak 2006 Jul;16(7):495

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http://dx.doi.org/7.2006/JCPSP.495495DOI Listing
July 2006

The movement disorders of Coffin-Lowry syndrome.

Brain Dev 2005 Mar;27(2):108-13

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland G3 8SJ, UK.

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http://dx.doi.org/10.1016/j.braindev.2003.11.010DOI Listing
March 2005

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

Clin Dysmorphol 2003 Apr;12(2):133-6

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ UK.

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http://dx.doi.org/10.1097/00019605-200304000-00012DOI Listing
April 2003