Elizabeth Wohler Selected Research

Type I Thanatophoric Dysplasia

1/2021

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

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Elizabeth Wohler Research Topics

Disease

1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2022
1	Kidney Diseases (Kidney Disease) 01/2022
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2022
1	Fibrosis (Cirrhosis) 01/2022
1	Type I Thanatophoric Dysplasia 01/2021
1	Hereditary Spastic Paraplegia 11/2020
1	Meningioma (Meningiomas) 01/2020
1	Leukoencephalopathies 01/2019
1	Multiple Sclerosis 01/2019
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2015
1	Intellectual Disability (Idiocy) 01/2015
1	Microcephaly 01/2015
1	Amenorrhea 01/2015
1	Alopecia (Baldness) 01/2015
1	Slti Salem syndrome 01/2015
1	Neoplasms (Cancer) 09/2014
1	Metachondromatosis 06/2010

Drug/Important Bio-Agent (IBA)

1	Sirtuin 1IBA 01/2022
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	DisulfidesIBA 01/2021
1	Peptide Hydrolases (Proteases)FDA Link 11/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	Fingolimod Hydrochloride (FTY720)FDA Link 01/2019
1	LipidsIBA 01/2019
1	A 17 (A-17)IBA 01/2015
1	Hormones (Hormone)IBA 01/2015
1	Nuclear Proteins (Protein, Nuclear)IBA 01/2015
1	Nonsense Codon (Nonsense Mutation)IBA 06/2010

Therapy/Procedure

1	Contraindications 09/2014