Tamas Balla Selected Research

Lenz Majewski hyperostotic dwarfism

1/2022

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

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Tamas Balla Research Topics

Disease

3	Neoplasms (Cancer) 04/2014 - 06/2009
1	Lenz Majewski hyperostotic dwarfism 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 02/2016
1	Sudden Death 02/2014
1	Obesity 07/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 07/2013
1	Gaucher Disease (Gaucher's Disease) 04/2012
1	Chronic Hepatitis C 01/2011
1	Bacterial Infections (Bacterial Infection) 01/2009
1	Infections 01/2009
1	Herpes Zoster 06/2007
1	Metrorrhagia (Spotting) 01/2007

Drug/Important Bio-Agent (IBA)

5	Phosphatidylinositols (Phosphatidylinositol)IBA 02/2014 - 01/2009
2	Proteins (Proteins, Gene)FDA Link 02/2016 - 01/2009
1	CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA 01/2022
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2014
1	Pharmaceutical PreparationsIBA 02/2014
1	Glucosylceramidase (Glucocerebrosidase)IBA 04/2012
1	Glucosylceramides (Glucocerebrosides)IBA 04/2012
1	EnzymesIBA 04/2012
1	phosphatidylinositol 4-phosphateIBA 01/2011
1	P-2 (P 2)IBA 01/2009
1	phosphatidylinositol 3,4,5-triphosphateIBA 01/2009
1	Connexin 43 (Connexin43)IBA 06/2007
1	Phosphotransferases (Kinase)IBA 01/2007
1	LipidsIBA 01/2007
1	Collodion (Nitrocellulose)IBA 01/2007