Publications by authors named "Ruth Day"

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Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Ruth Day

Orphanet J Rare Dis· July 2019

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FDA Public Meeting Report on "Drug Interactions With Hormonal Contraceptives: Public Health and Drug Development Implications".
Mohammad Akbar, Erin Berry-Bibee, Diana L Blithe, Ruth S Day, Alison Edelman

J Clin Pharmacol· December 2018

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Further delineation of the KAT6B molecular and phenotypic spectrum.
Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Ruth Day

Eur J Hum Genet· September 2015

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First steps toward understanding the variability in acute pain service provision and the quality of pain relief in everyday practice across the United Kingdom.
Fiona Duncan, Ruth Day, Carol Haigh, Stuart Gill, Jeremy Nightingale

Pain Med· January 2014

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Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Ruth Day

J Clin Endocrinol Metab· February 2012

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day

Am J Hum Genet· November 2011

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, David Amor, Salim Aftimos, Ruth Day

Hum Mutat· October 2010

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Examination of a fetus with congenital abnormality: a web tool designed by DYSCERNE--a network of centres of expertise for dysmorphology (www.dyscerne.org).
Kate Chandler, Ruth Day

Clin Dysmorphol· July 2010

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Identification of novel agonists of the integrin CD11b/CD18.
Mohd Hafeez Faridi, Dony Maiguel, Constantinos J Barth, Darren Stoub, Ruth Day

Bioorg Med Chem Lett· December 2009

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Informed consent procedures: an experimental test using a virtual character in a dialog systems training application.
Robert C Hubal, Ruth S Day

J Biomed Inform· October 2006

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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Pasquale Striano, Maria Luisa Lispi, Elena Gennaro, Francesca Madia, Monica Traverso, Ruth Day

Epilepsia· June 2006

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Index finger abnormalities in Simpson-Golabi-Behmel syndrome.
Ruth Day, Alan Fryer

Clin Dysmorphol· January 2005

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Is patient controlled analgesia worth the effort?
Ruth Day, Margaret Dunham

Nurs Times· May 2004

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Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.
Ruth Day, Alan Fryer

Clin Dysmorphol· January 2004

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Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.
Ruth Day, Alan Fryer

Clin Dysmorphol· October 2003

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Taking control of pain.
Ruth Day

Prof Nurse· September 2003

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Using remifentanil in labour via patient-controlled analgesia.
Lynn Grigg, Ruth Day

Prof Nurse· September 2003

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