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Sudha Kohli Selected Research
Sudha Kohli Research Topics
Disease
2
Cystic Fibrosis (Mucoviscidosis)
11/2020 - 07/2012
2
Canavan Disease (Leukodystrophy, Spongiform)
11/2020 - 01/2013
2
Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
07/2020 - 11/2010
2
Autosomal Dominant Polycystic Kidney (ADPKD)
05/2019 - 01/2017
1
Albinism
11/2023
1
Oculocutaneous Albinism (Albinism, Yellow Mutant)
11/2023
1
Atelosteogenesis type 2
10/2022
1
Diastrophic dysplasia
10/2022
1
Achondrogenesis
10/2022
1
Deafness (Deaf Mutism)
11/2020
1
Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)
11/2020
1
Primary Hyperoxaluria (Oxaluria, Primary)
11/2020
1
Galactosemias (Galactosemia)
11/2020
1
Glycogen Storage Disease Type II (Pompe's Disease)
11/2020
1
Lysinuric Protein Intolerance
10/2018
1
Ornithine Carbamoyltransferase Deficiency Disease
10/2018
1
Disease Progression
01/2017
1
Hyaline Fibromatosis Syndrome
11/2016
1
Brain Diseases (Brain Disorder)
11/2016
1
Propionic Acidemia
07/2016
1
Maple Syrup Urine Disease
09/2015
1
beta-Thalassemia (Cooley's Anemia)
06/2012
1
Anemia
06/2012
1
Thalassemia
06/2012
1
Kearns-Sayre Syndrome
05/2012
1
Crigler-Najjar Syndrome
12/2011
1
Congenital Abnormalities (Deformity)
12/2011
1
Phenylketonurias (Phenylketonuria)
11/2005
Drug/Important Bio-Agent (IBA)
1
Melanins (Melanin)
IBA
11/2023
1
Proteins (Proteins, Gene)
FDA Link
10/2022
1
xylometazoline (stas)
IBA
10/2022
1
Acyl Coenzyme A (Acyl CoA)
IBA
11/2020
1
Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)
IBA
10/2018
1
citrin
IBA
10/2018
1
Carbamyl Phosphate (Carbamoyl Phosphate)
IBA
10/2018
1
Arginase
IBA
10/2018
1
Ligases (Synthetase)
IBA
10/2018
1
Amino-Acid N-Acetyltransferase (N-Acetylglutamate Synthase)
IBA
10/2018
1
Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)
IBA
01/2017
1
ran-binding protein 2
IBA
11/2016
1
Initiator Codon (Start Codon)
IBA
11/2016
1
6-propylchromone-2-carboxylic acid (PCCA)
IBA
07/2016
1
Oxidoreductases (Dehydrogenase)
IBA
09/2015
1
Enzymes
IBA
09/2015
1
amidase
IBA
01/2013
1
Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)
IBA
07/2012
1
Hemoglobin A2
IBA
06/2012
1
Mitochondrial DNA (mtDNA)
IBA
05/2012
1
Uridine
IBA
12/2011
1
Bilirubin
IBA
12/2011
1
Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)
IBA
11/2005
Therapy/Procedure
3
Ligation
07/2020 - 11/2010
2
Therapeutics
11/2023 - 05/2012
1
Blood Transfusion (Blood Transfusions)
06/2012