Medical Genetics

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Mutation Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Neurofibromatosis 1 Medicine & Life Sciences
Exome Medicine & Life Sciences
Plexiform Neurofibroma Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Projects 2008 2020

In Vivo Gene Targeting to Treat Inherited Bone Disease

Deyle, D. R.

National Institutes of Health

7/1/156/30/20

Project: Research projectResearch Project

Gene Targeting
Bone Diseases
Osteogenesis
Bone and Bones
Collagen
Osteogenesis Imperfecta
Pluripotent Stem Cells
Mutation
Induced Pluripotent Stem Cells
Gene Targeting

Gene targeting with AAV vectors for the treatment of Osteogenesis Imperfecta

Deyle, D. R.

National Institutes of Health

9/1/0812/31/13

Project: Research projectClinical Investigator Award (CIA)

Osteogenesis Imperfecta
Dependovirus
Gene Targeting
Genes
Genetic Therapy

Research Output 1998 2019

Genomics as a Scientifically Based Fortune-teller

Babovic-Vuksanovic, D., Jan 1 2019, In : Mayo Clinic proceedings. 94, 1, p. 7-9 3 p.

Research output: Contribution to journalEditorial

Genomics
Fortune

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates

Lefever, E., Witters, P., Gielen, E., Vanclooster, A., Meersseman, W., Morava-Kozicz, E., Cassiman, D. & Laurent, M. R., Jan 1 2019, (Accepted/In press) In : Journal of Clinical Densitometry.

Research output: Contribution to journalArticle

Hypophosphatasia
Alkaline Phosphatase
Mutation
Diagnostic Errors
Tooth Abnormalities

Age-Dependent Decrease of Mitochondrial Complex II Activity in a Familial Mouse Model for Alzheimer's Disease

Emmerzaal, T. L., Rodenburg, R. J., Tanila, H., Verweij, V., Kiliaan, A. J. & Kozicz, T., Jan 1 2018, In : Journal of Alzheimer's disease : JAD. 66, 1, p. 75-82 8 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Oxidative Phosphorylation
Amyloid Plaques
Enzymes
Amyloid