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Ruth Newbury-Ecob Selected Research

Bohring syndrome

1/2019New macular findings in individuals with biallelic KLHL7 gene mutation.
6/2011De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

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Ruth Newbury-Ecob Research Topics

Disease

2Intellectual Disability (Idiocy)
01/2021 - 01/2018
2Neurodevelopmental Disorders
01/2020 - 11/2018
2Bohring syndrome
01/2019 - 06/2011
2Barth Syndrome
02/2013 - 10/2009
1Lymphoma (Lymphomas)
08/2020
1Cleft Palate (Palate, Cleft)
01/2020
1Anodontia (Hypodontia)
01/2020
1Growth Disorders
01/2019
1Kabuki syndrome
01/2019
1Sotos Syndrome
01/2019
1Macular Degeneration (Age-Related Maculopathy)
01/2019
1Neoplasms (Cancer)
01/2019
1Congenital Heart Defects (Congenital Heart Defect)
01/2018
1Perinatal Death
01/2018
1Inborn Genetic Diseases (Disease, Hereditary)
01/2018
1Schizophrenia (Dementia Praecox)
04/2016
1Cardiomyopathies (Cardiomyopathy)
02/2013
1Muscular Diseases (Myopathy)
02/2013
1Neutropenia
02/2013
1X-Linked Genetic Diseases
02/2013
1Delayed Puberty
05/2011
1Pallister-Hall Syndrome
04/2005
1Greig cephalopolysyndactyly syndrome
04/2005
1Warburg Sjo Fledelius syndrome
03/2005

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2021 - 01/2020
2DNA (Deoxyribonucleic Acid)IBA
01/2019 - 01/2018
1Retinaldehyde (Retinal)IBA
01/2019
1Histone MethyltransferasesIBA
01/2019
1DNA Methyltransferase 3AIBA
01/2019
1Adenosine Triphosphatases (ATPase)IBA
11/2018
1Protein Kinases (Protein Kinase)IBA
01/2018
1Histones (Histone)IBA
04/2016
13-methylglutaconic acidIBA
02/2013
1Nonsense Codon (Nonsense Mutation)IBA
06/2011
1Growth Hormone (Somatotropin)IBA
05/2011
1Cardiolipins (Cardiolipin)IBA
10/2009
1Transcription Factors (Transcription Factor)IBA
04/2005
1Hormones (Hormone)IBA
03/2005
1GTPase-Activating Proteins (GTPase-Activating Protein)IBA
03/2005
1Neurotransmitter Agents (Neurotransmitter)IBA
03/2005