Yumi Enomoto Selected Research

Young Simpson syndrome

5/2022

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

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Yumi Enomoto Research Topics

Disease

3	Intellectual Disability (Idiocy) 02/2022 - 01/2017
1	Birth Weight (Birth Weights) 10/2023
1	Drug Resistant Epilepsy 10/2023
1	Juvenile Amyotrophic Lateral Sclerosis 2 01/2023
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2023
1	Congenital Heart Defects (Congenital Heart Defect) 01/2023
1	Heart Failure 01/2023
1	Young Simpson syndrome 05/2022
1	Cohen syndrome 01/2020
1	Desbuquois syndrome 01/2019
1	Skin Abnormalities 01/2017
1	Neuroblastoma 03/2008

Drug/Important Bio-Agent (IBA)

1	Triglycerides (Triacylglycerol)IBA 10/2023
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2023
1	Carvedilol (Coreg)FDA LinkGeneric 01/2023
1	Enalapril FDA LinkGeneric 01/2023
1	MicroRNAs (MicroRNA)IBA 01/2023
1	Lysine AcetyltransferasesIBA 05/2022
1	Casein Kinase II (Casein Kinase 2)IBA 02/2022
1	CeramidesIBA 01/2020
1	Carrier Proteins (Binding Protein)IBA 01/2020
1	NucleotidesIBA 01/2020
1	GlycosaminoglycansIBA 01/2019
1	Ubiquitin-Conjugating EnzymesIBA 01/2017
1	GTP-Binding Proteins (G-Protein)IBA 03/2008
1	Phosphatidylinositols (Phosphatidylinositol)IBA 03/2008
1	CatecholaminesIBA 03/2008

Therapy/Procedure

1	Ketogenic Diet 10/2023
1	Cesarean Section (Caesarean Section) 10/2023