Nikolas Boy Selected Research

Neurodevelopmental Disorders

1/2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

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Nikolas Boy Research Topics

Disease

3	Metabolic Diseases (Metabolic Disease) 01/2018 - 12/2015
1	Neurodevelopmental Disorders 01/2021
1	Cognitive Dysfunction 01/2021
1	Methylenetetrahydrofolate reductase deficiency 01/2019
1	Glutaric Acidemia I 01/2017
1	Dystonia (Limb Dystonia) 12/2015
1	Weight Gain 05/2013

Drug/Important Bio-Agent (IBA)

2	Lysine (L-Lysine)FDA Link 01/2017 - 05/2013
2	Glutaryl-CoA DehydrogenaseIBA 01/2017 - 12/2015
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	ChromatinIBA 01/2021
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2019
1	AcidsIBA 01/2018
1	Tryptophan (L-Tryptophan)FDA Link 01/2017
1	HydroxylysineIBA 01/2017
1	benzoylamido- 4'- aminostilbene- 2,2'- disulfonate (BADS)IBA 12/2015

Therapy/Procedure

1	Therapeutics 01/2021