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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

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.180-21, Article 180

2019

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FDA Public Meeting Report on “Drug Interactions With Hormonal Contraceptives: Public Health and Drug Development Implications”

Journal of clinical pharmacology, 2018-12, Vol.58 (12), p.1655-1665

2018

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Informed consent procedures: An experimental test using a virtual character in a dialog systems training application

Journal of biomedical informatics, 2006-10, Vol.39 (5), p.532-540

2006

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Further delineation of the KAT6B molecular and phenotypic spectrum

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170

2015

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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Orphanet journal of rare diseases, 2010-10, Vol.5 (S1), p.P20-P20, Article P20

2010

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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

American journal of human genetics, 2011-11, Vol.89 (5), p.675-681

2011

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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)

Clinical dysmorphology, 2010-07, Vol.19 (3), p.172-173

2010

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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

Pain medicine (Malden, Mass.), 2014-01, Vol.15 (1), p.142-153

2014

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DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Orphanet journal of rare diseases, 2010-10, Vol.5 (S1), p.O14-O14, Article O14

2010

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Identification of novel agonists of the integrin CD11b/CD18

Bioorganic & medicinal chemistry letters, 2009-12, Vol.19 (24), p.6902-6906

2009

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Abstracts from the NIHR INVOLVE Conference 2017: London, UK. 28 November 2017

Research involvement and engagement, 2017-11, Vol.3 (S1), Article 27

2017

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Clinical genetics, 2008-11, Vol.74 (5), p.434-444

2008

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Convenient and Improved Halogenation of 3,5-Diarylisoxazoles Using N-Halosuccinimides

Synthesis (Stuttgart), 2003-07, Vol.2003 (10)

2003

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Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

Epilepsia (Copenhagen), 2006-06, Vol.47 (6), p.1029-1034

2006

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Growth retardation and undernutrition in children with spastic cerebral palsy

Journal of human nutrition and dietetics, 1996-12, Vol.9 (6), p.429-435

1996

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Evaluation of NSD2 and NSD3 in overgrowth syndromes

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.150-153

2005

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Convenient and Improved Halogenationof 3,5-Diarylisoxazoles Using N -Halosuccinimides

Synthesis (Stuttgart), 2003 (10), p.1586-1590

2003

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Index finger abnormalities in Simpson-Golabi-Behmel syndrome

Clinical dysmorphology, 2005-01, Vol.14 (1), p.35-36

2005

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The value of focusing: a psychological self-help strategy when living with chronic low back pain: a mixed methods study

Day, Ruth Isobel

2009

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Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia

Clinical dysmorphology, 2003-10, Vol.12 (4), p.277-278

2003

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The use of epidural and intrathecal analgesia in palliative care

International journal of palliative nursing, 2001-08, Vol.7 (8), p.369-374

Day, R

2001

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Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations

Clinical dysmorphology, 2004-01, Vol.13 (1), p.17-19

2004

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Utilizing United States Coast Guard data to calculate incidence rates and identify risk factors for occupational fishing injuries in New Jersey

Journal of agromedicine, 2010-10, Vol.15 (4), p.357-362

2010

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Alcohol and the fetus in the west of Scotland

BMJ, 1983-07, Vol.287 (6384), p.17-20

1983

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Cortical visual dysfunction in children: A clinical study

Eye (London), 1996-01, Vol.10 (3), p.302-309

1996

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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

FDA Public Meeting Report on “Drug Interactions With Hormonal Contraceptives: Public Health and Drug Development Implications”

Informed consent procedures: An experimental test using a virtual character in a dialog systems training application

Further delineation of the KAT6B molecular and phenotypic spectrum

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

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

First Steps Toward Understanding the Variability in Acute Pain Service Provision and the Quality of Pain Relief in Everyday Practice Across the United Kingdom

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Identification of novel agonists of the integrin CD11b/CD18

Abstracts from the NIHR INVOLVE Conference 2017: London, UK. 28 November 2017

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Convenient and Improved Halogenation of 3,5-Diarylisoxazoles Using N-Halosuccinimides

Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

Growth retardation and undernutrition in children with spastic cerebral palsy

Evaluation of NSD2 and NSD3 in overgrowth syndromes

Convenient and Improved Halogenationof 3,5-Diarylisoxazoles Using N -Halosuccinimides

Index finger abnormalities in Simpson-Golabi-Behmel syndrome

The value of focusing: a psychological self-help strategy when living with chronic low back pain: a mixed methods study

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia

The use of epidural and intrathecal analgesia in palliative care

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations

Utilizing United States Coast Guard data to calculate incidence rates and identify risk factors for occupational fishing injuries in New Jersey

Alcohol and the fetus in the west of Scotland

Cortical visual dysfunction in children: A clinical study

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