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David J Amor Selected Research

Nasodigitoacoustic syndrome

1/2019Pathogenic Variants in GPC4 Cause Keipert Syndrome.

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David J Amor Research Topics

Disease

6Intellectual Disability (Idiocy)
10/2020 - 03/2005
6Fragile X Syndrome (Martin Bell Syndrome)
01/2020 - 09/2011
3Neurodevelopmental Disorders
01/2022 - 11/2019
3Autistic Disorder (Autism)
10/2020 - 01/2019
2Apraxias (Dyspraxia)
01/2022 - 12/2021
2Dysarthria (Spastic Dysarthria)
01/2022 - 12/2021
2Neoplasms (Cancer)
01/2022 - 06/2013
2Premature Birth (Birth, Premature)
08/2021 - 01/2021
2Birth Weight (Birth Weights)
08/2021 - 01/2021
2Cerebral Palsy (Spastic Diplegia)
08/2021 - 01/2021
2Cardiomyopathies (Cardiomyopathy)
01/2020 - 09/2016
2Partial Epilepsies (Epilepsy, Partial)
01/2019 - 05/2015
2Genomic Instability
12/2016 - 11/2016
2Cognitive Dysfunction
04/2013 - 03/2012
1Stuttering (Stammering)
10/2022
1Imprinting Disorders
01/2022
1Ataxia (Dyssynergia)
01/2022
1Acute Intermittent Porphyria (Porphyria, Acute)
10/2021
1Congenital Abnormalities (Deformity)
03/2021
1Mitochondrial Diseases (Mitochondrial Disease)
01/2021
1Lathosterolosis
11/2020
1Liver Cirrhosis (Hepatic Cirrhosis)
11/2020
1Liver Diseases (Liver Disease)
11/2020
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2020
1Atherosclerosis
01/2020
1Muscle Spasticity (Spastic)
01/2020
1Neurocognitive Disorders (Clerambault Syndrome)
11/2019
1Intraoperative Awareness
11/2019
1Nasodigitoacoustic syndrome
01/2019
1Brain Neoplasms (Brain Tumor)
01/2018
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2018
1Kyphosis
01/2018
1Malformations of Cortical Development
01/2016
1Craniofacial Abnormalities
08/2015
1Focal Cortical Dysplasia
05/2015
1Parkinson Disease (Parkinson's Disease)
12/2014
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2014
1Prostatic Neoplasms (Prostate Cancer)
09/2014
1Facies
06/2014
1Aneuploidy (Aneuploid)
04/2013
1Hemolysis
01/2007
1HELLP Syndrome
01/2007
1Ring Chromosomes (Ring Chromosome)
03/2005
1Monosomy
03/2005
1Brain Diseases (Brain Disorder)
01/2004

Drug/Important Bio-Agent (IBA)

8Proteins (Proteins, Gene)FDA Link
01/2020 - 09/2011
5Messenger RNA (mRNA)IBA
10/2020 - 01/2019
4ElementsIBA
01/2018 - 04/2013
3Biomarkers (Surrogate Marker)IBA
08/2021 - 03/2012
2EnzymesIBA
10/2021 - 01/2007
2Pharmaceutical PreparationsIBA
01/2019 - 05/2015
2Phosphotransferases (Kinase)IBA
01/2018 - 09/2016
1UbiquitinIBA
01/2022
1Mitochondrial RNAIBA
01/2022
1snRNP Core ProteinsIBA
01/2022
1F-Box ProteinsIBA
01/2022
1Biological ProductsIBA
01/2022
1Proteasome Endopeptidase Complex (Proteasome)IBA
01/2022
1CyclinsIBA
01/2022
1Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
10/2021
1Inhibins (Inhibin)IBA
08/2021
1DNA (Deoxyribonucleic Acid)IBA
01/2021
1RNA (Ribonucleic Acid)IBA
01/2021
1Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA
01/2021
1lathosterolIBA
11/2020
1CholesterolIBA
11/2020
1SterolsIBA
11/2020
1Simvastatin (Zocor)FDA LinkGeneric
11/2020
1Protein Kinases (Protein Kinase)IBA
01/2020
1Serine (L-Serine)FDA Link
01/2020
1Extracellular Matrix ProteinsIBA
01/2020
1Retinaldehyde (Retinal)IBA
01/2020
1Transcription Factors (Transcription Factor)IBA
11/2019
1CytosineIBA
08/2019
1GuanineIBA
08/2019
1GlypicansIBA
01/2019
1CollagenIBA
01/2018
1Type I DNA Topoisomerases (Topoisomerase I)IBA
12/2016
1Cruciform DNA (Holliday Junctions)IBA
12/2016
1Peptide Hydrolases (Proteases)FDA Link
11/2016
1CalciumIBA
09/2016
1TOR Serine-Threonine KinasesIBA
01/2016
1Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
08/2015
1SynucleinsIBA
12/2014
1Genetic Markers (Genetic Marker)IBA
09/2014
1CohesinsIBA
06/2014
1Growth Hormone (Somatotropin)IBA
03/2005
1Mitochondrial DNA (mtDNA)IBA
01/2004

Therapy/Procedure

3Therapeutics
10/2022 - 12/2021
2Speech Therapy (Therapy, Speech)
10/2022 - 12/2021
1Cesarean Section (Caesarean Section)
03/2021
1General Anesthesia
11/2019