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Estelle Colin Selected Research
Estelle Colin Research Topics
Disease
5
Neurodevelopmental Disorders
10/2023 - 12/2019
4
Epilepsy (Aura)
03/2024 - 08/2015
4
Brain Diseases (Brain Disorder)
03/2024 - 08/2015
4
Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 01/2018
2
Myoclonic dystonia
01/2022 - 01/2021
2
Intellectual Disability (Idiocy)
01/2021 - 04/2016
1
Autism Spectrum Disorder
01/2024
1
Glioma (Gliomas)
11/2023
1
Rare Diseases (Rare Disease)
01/2023
1
Angelman Syndrome (Syndrome, Angelman)
01/2023
1
Autistic Disorder (Autism)
01/2022
1
Kabuki syndrome
01/2022
1
Metabolic Diseases (Metabolic Disease)
01/2022
1
Ataxia (Dyssynergia)
01/2021
1
Loeys-Dietz Syndrome
01/2021
1
Inborn Genetic Diseases (Disease, Hereditary)
01/2021
1
Hypophosphatasia
01/2021
1
Congenital Disorders of Glycosylation
11/2020
1
Hereditary Spastic Paraplegia
06/2020
1
Spinocerebellar ataxia 28
06/2020
1
Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
06/2020
1
Trichothiodystrophy Syndromes
01/2020
1
Ataxia Telangiectasia (Louis Bar Syndrome)
10/2019
1
Simpson-Golabi-Behmel syndrome
01/2018
1
Thrombosis (Thrombus)
01/2017
1
Colitis
01/2017
1
Ectodermal Dysplasia (Aplasia Cutis Congenita)
01/2017
1
Periventricular Nodular Heterotopia
01/2017
1
Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2017
1
Schimke immunoosseous dysplasia
11/2016
1
Dent Disease 2
08/2015
1
Dent disease 1
08/2015
1
Ciliopathies
06/2011
Drug/Important Bio-Agent (IBA)
5
Proteins (Proteins, Gene)
FDA Link
01/2023 - 06/2011
4
Mitochondrial DNA (mtDNA)
IBA
01/2022 - 01/2018
3
DNA (Deoxyribonucleic Acid)
IBA
01/2024 - 01/2020
2
RNA (Ribonucleic Acid)
IBA
07/2023 - 01/2022
2
Calmodulin (Calcium-Dependent Activator Protein)
IBA
01/2022 - 01/2021
1
Cyclic Nucleotides
IBA
03/2024
1
Amino Acids
FDA Link
01/2024
1
Glutamic Acid (Glutamate)
FDA Link
01/2024
1
Protein-Tyrosine Kinases (Tyrosine Kinase)
IBA
11/2023
1
Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)
IBA
11/2023
1
Biomarkers (Surrogate Marker)
IBA
10/2023
1
Ligases (Synthetase)
IBA
01/2023
1
Ubiquitin
IBA
01/2023
1
Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)
IBA
01/2023
1
Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)
IBA
01/2023
1
Nucleotides
IBA
01/2022
1
N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))
IBA
01/2021
1
Transforming Growth Factors (Transforming Growth Factor)
IBA
01/2021
1
Alkaline Phosphatase
IBA
01/2021
1
Protein Isoforms (Isoforms)
IBA
11/2020
1
m-AAA proteases
IBA
06/2020
1
AMPA Receptors (AMPA Receptor)
IBA
12/2019
1
Phosphotransferases (Kinase)
IBA
10/2019
1
Sirolimus (Rapamycin)
FDA Link
10/2019
1
Glypicans
IBA
01/2018
1
Adenosine Diphosphate (ADP)
IBA
01/2017
1
Acids
IBA
01/2017
1
Ristocetin
IBA
01/2017
1
Filamins
IBA
01/2017
1
Codon (Codons)
IBA
01/2017
1
Collagen
IBA
01/2017
1
von Willebrand Factor
IBA
01/2017
1
Chromatin
IBA
11/2016
1
Phosphoproteins
IBA
04/2016
1
Protons (Proton)
IBA
08/2015
1
Potassium
IBA
08/2015
1
Inositol Polyphosphate 5-Phosphatases
IBA
08/2015
1
Chlorides
IBA
08/2015
Therapy/Procedure
1
Transplantation
01/2017