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Patrick Edery Selected Research
Patrick Edery Research Topics
Disease
8
Intellectual Disability (Idiocy)
01/2021 - 07/2003
4
type 1 Microcephalic osteodysplastic primordial dwarfism
01/2023 - 04/2011
3
Microcephaly
01/2023 - 02/2012
2
Neurodevelopmental Disorders
10/2023 - 01/2017
2
Brain Diseases (Brain Disorder)
12/2019 - 01/2017
2
Cohen syndrome
01/2019 - 12/2015
2
Seizures (Absence Seizure)
01/2018 - 03/2008
2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
12/2017 - 07/2015
2
Epilepsy (Aura)
12/2016 - 07/2008
2
Chondrodysplasia Punctata (Stippled Epiphyses)
11/2015 - 07/2015
2
Autoimmune Diseases (Autoimmune Disease)
11/2015 - 07/2015
2
Congenital Abnormalities (Deformity)
07/2015 - 05/2009
1
Neurodegenerative Diseases (Neurodegenerative Disease)
11/2023
1
Renpenning syndrome 1
11/2023
1
Dwarfism
11/2023
1
Inborn Genetic Diseases (Disease, Hereditary)
01/2023
1
Rare Diseases (Rare Disease)
07/2022
1
Agenesis of Corpus Callosum
01/2021
1
Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
01/2021
1
Paraplegia (Spastic Paraplegia)
01/2021
1
Aphasia (Dysphasia)
01/2021
1
Neurologic Gait Disorders (Gait, Hemiplegic)
01/2021
1
Hydrocephalus (Hydrocephaly)
01/2021
1
Pathologic Constriction (Stenosis)
01/2021
1
Microphthalmos
01/2020
1
Neutropenia
01/2019
1
Cognitive Dysfunction
01/2018
1
Portal Hypertension
12/2017
1
Ascites
12/2017
1
Hydrops Fetalis (Fetal Edema)
12/2017
1
Disease Progression
12/2017
1
Hypoalbuminemia
12/2017
1
Protein-Losing Enteropathies (Protein-Losing Enteropathy)
12/2017
1
Pericarditis
12/2017
1
Nephrotic Syndrome (Syndrome, Nephrotic)
12/2017
1
Liver Failure
12/2017
1
Cardiomyopathies (Cardiomyopathy)
12/2017
1
Penis agenesis
03/2017
1
Cryptorchidism (Undescended Testes)
03/2017
1
Hypospadias
03/2017
1
Movement Disorders (Movement Disorder)
01/2017
1
Infantile Spasms (West Syndrome)
01/2016
1
Insulin Resistance
12/2015
1
Diabetes Mellitus
12/2015
1
Type 2 Diabetes Mellitus (MODY)
12/2015
1
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
07/2015
1
Lathosterolosis
07/2015
1
Inborn Errors Metabolism (Inborn Errors of Metabolism)
07/2015
1
Brachytelephalangic Chondrodysplasia Punctata
07/2015
1
Chromosome Aberrations (Chromosome Abnormalities)
07/2015
1
Antley-Bixler Syndrome Phenotype
07/2015
1
Desmosterolosis
07/2015
1
Peroxisomal Disorders (Peroxisomal Disorder)
07/2015
1
Rhizomelic Chondrodysplasia Punctata
07/2015
1
HEM dysplasia
07/2015
1
Hereditary Hemorrhagic Telangiectasia
05/2014
1
Epistaxis (Nosebleed)
05/2014
1
X-Linked Mental Retardation (Mental Retardation, X Linked)
05/2013
1
Multiple Hamartoma Syndrome (Cowden's Disease)
03/2013
Drug/Important Bio-Agent (IBA)
4
Proteins (Proteins, Gene)
FDA Link
11/2023 - 07/2008
4
Small Nuclear RNA (snRNA)
IBA
01/2023 - 04/2011
2
Biomarkers (Surrogate Marker)
IBA
11/2023 - 10/2023
2
Nonsense Codon (Nonsense Mutation)
IBA
01/2020 - 05/2007
2
DNA (Deoxyribonucleic Acid)
IBA
01/2020 - 01/2018
2
Hormones (Hormone)
IBA
03/2017 - 05/2009
2
Vitamin K
FDA Link
07/2015 - 03/2005
2
Carrier Proteins (Binding Protein)
IBA
07/2015 - 05/2007
1
Complementary DNA (cDNA)
IBA
11/2023
1
Messenger RNA (mRNA)
IBA
11/2023
1
Serine (L-Serine)
FDA Link
11/2023
1
Small Nuclear Ribonucleoproteins (snRNP)
IBA
01/2023
1
Calcium Carbonate (Limestone)
FDA Link
07/2022
1
Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)
IBA
01/2021
1
Aspartate-Ammonia Ligase (Asparagine Synthetase)
IBA
12/2019
1
Anticonvulsants (Antiepileptic Drugs)
IBA
01/2019
1
Serpins
IBA
01/2019
1
Glutamine (L-Glutamine)
FDA Link
01/2018
1
Valproic Acid (Depakote)
FDA Link
Generic
01/2018
1
Transaminases (Aminotransferases)
IBA
12/2017
1
Congenital disorder of glycosylation type 1A
IBA
12/2017
1
phosphomannomutase
IBA
12/2017
1
N-Methyl-D-Aspartate Receptors (NMDA Receptors)
IBA
01/2017
1
Retinoids
IBA
12/2016
1
Cytoplasmic and Nuclear Receptors (Nuclear Receptors)
IBA
12/2016
1
Peptide Elongation Factors (Elongation Factor)
IBA
01/2016
1
Insulin (Novolin)
FDA Link
12/2015
1
Glucose (Dextrose)
FDA Link
Generic
12/2015
1
A 7 (A-7)
IBA
11/2015
1
Cytidine Diphosphate (CDP)
IBA
11/2015
1
Antibodies
IBA
11/2015
1
Cholesterol
IBA
07/2015
1
emopamil (levemopamil)
IBA
07/2015
1
Squalene
IBA
07/2015
1
Sterols
IBA
07/2015
1
Nasal Sprays
IBA
05/2014
1
Bevacizumab (Avastin)
FDA Link
05/2014
1
rho GTPase-activating protein
IBA
05/2013
1
Tensins
IBA
03/2013
1
Phosphoric Monoester Hydrolases (Phosphatases)
IBA
03/2013
Therapy/Procedure
1
Nutritional Support (Artificial Feeding)
12/2017