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Tjitske Kleefstra Selected Research
Tjitske Kleefstra Research Topics
Disease
31
Intellectual Disability (Idiocy)
01/2021 - 01/2004
14
Neurodevelopmental Disorders
10/2022 - 04/2014
9
Kleefstra Syndrome
10/2019 - 07/2012
5
Epilepsy (Aura)
01/2021 - 01/2010
4
Muscle Hypotonia (Hypotonia)
01/2018 - 02/2014
4
X-Linked Mental Retardation (Mental Retardation, X Linked)
09/2007 - 08/2002
3
Microcephaly
01/2015 - 01/2014
2
Schizophrenia (Dementia Praecox)
01/2022 - 01/2021
2
Autistic Disorder (Autism)
01/2021 - 01/2010
2
Cognitive Dysfunction
01/2018 - 04/2014
1
KBG syndrome
10/2022
1
Rare Diseases (Rare Disease)
07/2022
1
Snijders Blok-Campeau syndrome
01/2022
1
Headache (Headaches)
01/2021
1
Nervous System Diseases (Neurological Disorders)
01/2021
1
Muscle Spasticity (Spastic)
01/2021
1
Vomiting
01/2021
1
Language Development Disorders (Semantic-Pragmatic Disorder)
01/2021
1
Floating-harbor syndrome
01/2021
1
Mental Disorders (Mental Disorder)
10/2019
1
Complex Partial Epilepsy (Psychomotor Epilepsy)
01/2019
1
Nasodigitoacoustic syndrome
01/2019
1
Hydrocephalus (Hydrocephaly)
01/2019
1
Hyperplasia
01/2019
1
Overweight
01/2018
1
Muscular Dystrophies (Muscular Dystrophy)
12/2017
1
Walker-Warburg Syndrome
12/2017
1
Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
12/2017
1
Autism Spectrum Disorder
10/2017
1
Spondylocarpotarsal synostosis
01/2017
1
Pathologic Complete Response
01/2016
1
Gonadal Dysgenesis (Gonadal Agenesis)
10/2015
1
Hypertelorism
08/2015
1
Infantile Epileptic-Dyskinetic Encephalopathy
05/2015
1
Obesity
01/2015
1
Neoplasms (Cancer)
01/2014
1
Hypersensitivity (Allergy)
01/2014
1
Nijmegen Breakage Syndrome
01/2014
1
Type I 3-Methylglutaconic Aciduria
11/2013
1
Otitis Media
08/2013
1
Contracture
08/2013
1
Congenital Disorders of Glycosylation
08/2013
1
Craniofacial Abnormalities
07/2012
1
Tuberous Sclerosis (Bourneville's Disease)
02/2011
1
Blepharophimosis
01/2011
1
Disorders of Sex Development (Intersexuality)
01/2010
Drug/Important Bio-Agent (IBA)
10
Proteins (Proteins, Gene)
FDA Link
10/2022 - 01/2010
8
Histone Methyltransferases
IBA
01/2021 - 03/2013
7
DNA (Deoxyribonucleic Acid)
IBA
01/2019 - 01/2004
5
Euchromatin
IBA
01/2018 - 03/2013
4
Histones (Histone)
IBA
01/2022 - 01/2016
3
Chromatin
IBA
01/2022 - 07/2012
2
Lysine (L-Lysine)
FDA Link
01/2022 - 01/2021
2
Methyltransferases
IBA
01/2022 - 01/2021
2
Enzymes
IBA
01/2020 - 02/2014
2
Transcription Factors (Transcription Factor)
IBA
01/2019 - 04/2014
2
Nonsense Codon (Nonsense Mutation)
IBA
01/2010 - 02/2006
2
creatine transporter
IBA
09/2007 - 07/2004
2
X-linked Creatine deficiency
IBA
09/2007 - 07/2004
1
Calcium Carbonate (Limestone)
FDA Link
07/2022
1
Serotonin (5 Hydroxytryptamine)
IBA
01/2021
1
Mitochondrial DNA (mtDNA)
IBA
01/2021
1
RNA (Ribonucleic Acid)
IBA
01/2021
1
Peptide Elongation Factors (Elongation Factor)
IBA
01/2020
1
COOH-terminal signal transamidase
IBA
01/2019
1
Glypicans
IBA
01/2019
1
Protein Isoforms (Isoforms)
IBA
12/2018
1
Adenosine Triphosphatases (ATPase)
IBA
11/2018
1
Mediator Complex
IBA
05/2018
1
2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridine
IBA
01/2018
1
diazonaphthalenedisulfonic acid (NDS)
IBA
01/2018
1
Protocadherins
IBA
01/2018
1
N-acetyltryptophanamide (NATA)
IBA
01/2018
1
Dystroglycans (Dystroglycan)
IBA
12/2017
1
Guanosine Diphosphate (GDP)
IBA
11/2017
1
Guanosine Triphosphate (GTP)
IBA
11/2017
1
Protein Kinases (Protein Kinase)
IBA
11/2017
1
Myosins (Myosin)
IBA
01/2017
1
DNA Helicases
IBA
01/2016
1
Co-Repressor Proteins
IBA
01/2016
1
Valproic Acid (Depakote)
FDA Link
Generic
01/2016
1
FSH Receptors (FSH Receptor)
IBA
10/2015
1
Phosphoprotein Phosphatases (Phosphatases, Protein)
IBA
08/2015
1
Serine (L-Serine)
FDA Link
08/2015
1
Threonine (L-Threonine)
FDA Link
08/2015
1
Protein Phosphatase 2 (Protein Phosphatase 2A)
IBA
08/2015
1
Voltage-Gated Sodium Channels
IBA
05/2015
1
Insulin (Novolin)
FDA Link
01/2015
1
beta Catenin
IBA
01/2015
1
Cullin Proteins (Cullins)
IBA
01/2015
1
Kinesins
IBA
07/2014
1
Catenins
IBA
04/2014
1
Dystrophin
IBA
04/2014
1
Ligases (Synthetase)
IBA
01/2014
1
Leucine (L-Leucine)
FDA Link
11/2013
1
Lipids
IBA
08/2013
1
trans-sodium crocetinate (crocetin)
IBA
02/2011
1
Forkhead Transcription Factors (Forkhead Box Proteins)
IBA
01/2011
Therapy/Procedure
1
Therapeutics
01/2019
1
Enteral Nutrition (Feeding, Tube)
08/2013