Concepedia

Dimitar N. Azmanov

DN

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Publications

24

Citations

1.7K

H-Index

18

Active since

2006

Affiliations

The University of Western Australia(Current)

Harry Perkins Institute of Medical Research

Queen Elizabeth II Medical Centre

Pathwest Laboratory Medicine

Medical University of Sofia

Dimitar N. Azmanov is an author at The University of Western Australia specializing in medicine, genetics, and neuroscience.

ORCID

Top concepts

Publications per year

2006–2024

24

Publications

24

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson et al. · Journal of Clinical Investigation · 2016 · 286 citations · Full text

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson et al. · Journal of Clinical Investigation · 2017 · 196 citations · Full text

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva et al. · The American Journal of Human Genetics · 2012 · 98 citations · Full text

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