Susanna Balcells Selected Research

Lysine Acetyltransferases

10/2020

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

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Susanna Balcells Research Topics

Disease

3	Femoral Fractures (Femoral Fracture) 01/2022 - 01/2020
2	Neurodevelopmental Disorders 03/2024 - 10/2020
1	Schaaf-Yang syndrome 03/2024
1	Bone Diseases (Bone Disease) 06/2022
1	Muscular Dystrophies (Muscular Dystrophy) 04/2022
1	Genetic Predisposition to Disease (Genetic Predisposition) 01/2022
1	Inflammation (Inflammations) 01/2022
1	Osteoporosis 07/2021
1	Focal Dermal Hypoplasia (Syndrome, Goltz) 02/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 10/2020
1	Intellectual Disability (Idiocy) 10/2020
1	Muscle Hypotonia (Hypotonia) 10/2020
1	Osteochondromatosis 01/2020
1	Meningioma (Meningiomas) 01/2020
1	Gaucher Disease (Gaucher's Disease) 01/2020
1	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses) 01/2020

Drug/Important Bio-Agent (IBA)

3	Diphosphonates (Bisphosphonates)IBA 01/2022 - 01/2020
1	Proteins (Proteins, Gene)FDA Link 03/2024
1	alpha2 Subunit Collagen Type IIBA 06/2022
1	CollagenIBA 04/2022
1	3,4-Dihydroxyphenylacetic AcidIBA 01/2022
1	GlucocorticoidsIBA 01/2022
1	NitrogenIBA 07/2021
1	Cytochrome P-450 CYP1A1 (CYP1A1)IBA 07/2021
1	Proline (L-Proline)FDA Link 02/2021
1	Nonsense Codon (Nonsense Mutation)IBA 02/2021
1	Lysine AcetyltransferasesIBA 10/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020