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Maria Cristina Digilio Selected Research
Maria Cristina Digilio Research Topics
Disease
7
Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2021 - 01/2007
5
Intellectual Disability (Idiocy)
09/2020 - 02/2010
4
Congenital Heart Defects (Congenital Heart Defect)
05/2015 - 03/2003
2
Neurodevelopmental Disorders
09/2022 - 01/2022
2
Rare Diseases (Rare Disease)
01/2022 - 11/2021
2
KBG syndrome
01/2020 - 11/2019
2
Atrioventricular Septal Defect
10/2018 - 02/2013
2
Kabuki syndrome
12/2017 - 01/2012
2
DiGeorge Syndrome (Syndrome, DiGeorge)
10/2016 - 05/2015
1
Ependymoma
09/2022
1
Muscle Hypotonia (Hypotonia)
09/2022
1
Cardiomyopathies (Cardiomyopathy)
01/2022
1
Genomic Instability
01/2022
1
Astrocytoma (Pilocytic Astrocytoma)
01/2021
1
Trichothiodystrophy Syndromes
01/2021
1
Xeroderma Pigmentosum (Kaposi's Disease)
01/2021
1
Neoplasms (Cancer)
01/2021
1
Agenesis of Cerebellar Vermis
12/2020
1
Hypogonadism (Hypergonadotropic Hypogonadism)
12/2020
1
Coloboma (Colobomas)
12/2020
1
Epilepsy (Aura)
09/2020
1
Gingival Overgrowth
09/2020
1
Hypertrichosis
09/2020
1
Channelopathies
09/2020
1
Megalencephaly
09/2020
1
Cardiac Arrhythmias (Arrythmia)
10/2018
1
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
04/2018
1
Heart Failure
04/2018
1
Psychotic Disorders (Schizoaffective Disorder)
10/2016
1
CHARGE Syndrome
09/2015
1
Neurofibroma
08/2015
1
Atrial Heart Septal Defects (Atrial Septal Defect)
12/2014
1
Holt-Oram syndrome
12/2014
1
Language Development Disorders (Semantic-Pragmatic Disorder)
01/2014
1
Alagille Syndrome (Alagille-Watson Syndrome)
12/2013
1
Crisscross Heart
10/2010
1
Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis)
03/2010
1
Cardiomegaly (Heart Hypertrophy)
05/2008
1
Hemorrhage
01/2008
1
Hypocalcemia
01/2008
1
Bronchomalacia
01/2008
1
Down Syndrome (Down's Syndrome)
05/2003
1
Tetralogy of Fallot (Fallot Tetralogy)
04/2003
1
Syndactyly (Polysyndactyly)
03/2003
1
Hypospadias
03/2003
1
Smith-Lemli-Opitz Syndrome
03/2003
Drug/Important Bio-Agent (IBA)
4
Proteins (Proteins, Gene)
FDA Link
01/2022 - 02/2013
3
DNA (Deoxyribonucleic Acid)
IBA
01/2022 - 05/2008
3
Mitogen-Activated Protein Kinases
IBA
01/2021 - 01/2007
2
Enzymes
IBA
09/2022 - 05/2003
2
Growth Hormone (Somatotropin)
IBA
01/2021 - 12/2020
2
Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)
IBA
01/2021 - 01/2007
2
Potassium
IBA
09/2020 - 10/2018
1
Peptide Elongation Factors (Elongation Factor)
IBA
09/2022
1
transcription factor S-II
IBA
09/2022
1
Nucleotides
IBA
09/2022
1
RNA Polymerase II (RNA Polymerase B)
IBA
09/2022
1
Cytidine Monophosphate (CMP)
IBA
01/2022
1
Staphylococcal Protein A (Protein A)
IBA
01/2021
1
KATP Channels
IBA
09/2020
1
Potassium Channels (Potassium Channel)
IBA
09/2020
1
Adenosine Triphosphate (ATP)
IBA
09/2020
1
Biomarkers (Surrogate Marker)
IBA
01/2020
1
Calcineurin
IBA
10/2018
1
Nonsense Codon (Nonsense Mutation)
IBA
05/2018
1
TOR Serine-Threonine Kinases
IBA
04/2018
1
Monomeric GTP-Binding Proteins
IBA
01/2018
1
Chromatin
IBA
12/2017
1
Polytetrafluoroethylene (Teflon)
FDA Link
10/2016
1
Omega-3 Fatty Acids (Omega 3 Fatty Acids)
IBA
10/2016
1
Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)
IBA
10/2016
1
Initiator Codon (Start Codon)
IBA
09/2015
1
Neurofibromin 1 (Neurofibromin)
IBA
08/2015
1
Facilitative Glucose Transport Proteins (Glucose Transporter)
IBA
05/2015
1
Amino Acids
FDA Link
12/2014
1
Serine (L-Serine)
FDA Link
12/2014
1
Transcription Factors (Transcription Factor)
IBA
12/2014
1
Leucine (L-Leucine)
FDA Link
12/2014
1
Calcium
IBA
01/2014
1
Phosphorus (Red Phosphorus)
IBA
01/2014
1
Transaminases (Aminotransferases)
IBA
12/2013
1
Bilirubin
IBA
12/2013
1
Histones (Histone)
IBA
01/2012
1
Histone Demethylases
IBA
01/2012
1
Connexin 43 (Connexin43)
IBA
10/2010
1
Elastin
IBA
03/2010
1
Oligonucleotides
IBA
02/2010
1
Mitogen-Activated Protein Kinase Kinases (MEKs)
IBA
06/2009
1
Antioxidants
IBA
05/2003
1
Glutathione (Reduced Glutathione)
IBA
05/2003
1
glutathionyl hemoglobin
IBA
05/2003
1
beta-cyclodextrin tetradecasulfate (CTDS)
IBA
04/2003
1
Cholesterol
IBA
03/2003
Therapy/Procedure
1
Conservative Treatment
11/2021
1
Therapeutics
04/2018
1
Ligation
01/2010
1
Operative Surgical Procedures
01/2008