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
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Neurofibromatosis 1 Medicine & Life Sciences
Plexiform Neurofibroma Medicine & Life Sciences
Exome 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 2018

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

A new opportunity: metabolism and neuropsychiatric disorders

Kozicz, T. & Morava-Kozicz, E., Jul 1 2018, In : Journal of inherited metabolic disease. 41, 4, p. 583-584 2 p.

Research output: Contribution to journalEditorial

1 Citations

Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features?

Helder, M. R. K., Schaff, H. V., Foley, T. A., Anavekar, N. S., Deyle, D. R., Pochettino, A. & Connolly, H. M., Jan 1 2018, (Accepted/In press) In : Mayo Clinic Proceedings.

Research output: Contribution to journalArticle

Marfan Syndrome
Dilatation
Dissection
Genetic Testing