Publications by authors named "Deborah Ruddy"

Claim this Profile
E
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Eamonn R Maher, Julian Adlard, Julian Barwell, Angela F Brady, Paul Brennan, Deborah Ruddy

Br J Cancer· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease.
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M Ruddy

Genes (Basel)· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
Maja Sukalo, Felix Tilsen, Hülya Kayserili, Dietmar Müller, Beyhan Tüysüz, Deborah M Ruddy

Hum Mutat· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Deborah Ruddy

Circ Cardiovasc Genet· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Maja Sukalo, Felix Tilsen, Hülya Kayserili, Dietmar Müller, Beyhan Tüysüz, Deborah M Ruddy

Hum Mutat· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Deborah Ruddy

J Med Genet· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
S Veronica Tan, Werner J Z'Graggen, Delphine Boërio, Dipa Raja Rayan, Fiona Norwood, Deborah Ruddy

Muscle Nerve· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pharmacists' knowledge, attitudes, and practices regarding influenza vaccination and treatment of pregnant women.
Siobhan M Dolan, Shanna Cox, Naomi Tepper, Deborah Ruddy, Sonja A Rasmussen

J Am Pharm Assoc (2003)· May 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Laura Southgate, Rajiv D Machado, Katie M Snape, Martin Primeau, Dimitra Dafou, Deborah M Ruddy

Am J Hum Genet· May 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello

Am J Med Genet A· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
Katie M G Snape, Deborah Ruddy, Martin Zenker, Wim Wuyts, Margo Whiteford

Am J Med Genet A· August 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?
Clare Turnbull, Deborah Ruddy, Angela Barnicoat

Clin Dysmorphol· July 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Caroline Vance, Boris Rogelj, Tibor Hortobágyi, Kurt J De Vos, Agnes Lumi Nishimura, Deborah Ruddy

Science· February 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
Caroline Vance, Ammar Al-Chalabi, Deborah Ruddy, Bradley N Smith, Xun Hu

Brain· April 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
Deborah M Ruddy, Matthew J Parton, Ammar Al-Chalabi, Cathryn M Lewis, Caroline Vance

Am J Hum Genet· August 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis