Débora Bertola Selected Research

Strudwick syndrome

1/2019	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
11/2017	Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

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Débora Bertola Research Topics

Disease

2	Strudwick syndrome 01/2019 - 11/2017
1	Arthritis (Polyarthritis) 09/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	sponastrime type Spondyloepimetaphyseal dysplasia 01/2019
1	Trisomy (Trisomies) 07/2018
1	Neoplasms (Cancer) 05/2017
1	Costello Syndrome 05/2017
1	Hyaline Fibromatosis Syndrome 04/2012
1	Bone Resorption 10/2010
1	Pycnodysostosis 10/2010
1	Sotos Syndrome 09/2009
1	Sclerosteosis 12/2008

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 09/2019 - 12/2008
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/2019
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 09/2019
1	2- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA 01/2019
1	CamptothecinIBA 01/2019
1	dichlorobis(azomycin)platinum IIIBA 07/2018
1	Fibronectins (Fibronectin)IBA 11/2017
1	Amino Acids FDA Link 05/2017
1	Mitogen-Activated Protein KinasesIBA 05/2017
1	anthrax toxin receptorsIBA 04/2012
1	Cathepsin KIBA 10/2010
1	Cysteine Proteases (Cysteine Protease)IBA 10/2010
1	Nonsense Codon (Nonsense Mutation)IBA 12/2008

Therapy/Procedure

1	Ligation 09/2009