Ruth A Newbury-Ecob

Ruth A Newbury-Ecob

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Ruth A Newbury-Ecob

Ruth A Newbury-Ecob

Publications by authors named "Ruth A Newbury-Ecob"

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15Publications

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Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.

Pacing Clin Electrophysiol 2016 May 2;39(5):497-501. Epub 2016 Mar 2.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

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http://dx.doi.org/10.1111/pace.12813DOI Listing
May 2016

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

Clin Dysmorphol 2015 Jul;24(3):113-4

aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000069DOI Listing
July 2015

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

Clin Dysmorphol 2012 Jul;21(3):141-3

Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St., Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32835306f0DOI Listing
July 2012

The phenotype of Floating-Harbor syndrome in 10 patients.

Am J Med Genet A 2010 Apr;152A(4):821-9

Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33294DOI Listing
April 2010

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.

Am J Med Genet A 2006 Mar;140(6):649-51

Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31136DOI Listing
March 2006

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Nat Genet 2005 May 10;37(5):465-7. Epub 2005 Apr 10.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng1546DOI Listing
May 2005

Holt-Oram syndrome: is there a "face"?

Am J Med Genet A 2003 May;118A(4):314-8

Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.10214DOI Listing
May 2003