Concepedia

Author

Marija Mihelec

Children's Hospital at Westmead

Also Known As

Marija Mihelec, Mihelec, M

14

Publications

358

Citations

8

H-Index

16

Concepts

All Affiliations

Children's Hospital at WestmeadThe University of SydneyChildren's Medical Research InstituteThe University of QueenslandMacquarie University
MM

About

Marija Mihelec is an author at Children's Hospital at Westmead specializing in medicine, genetics, and ophthalmology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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4

243

2

Cell Biology

2

2

115

3

Molecular Genetics

2

2

128

4

Pathology

1

1

99

5

Clinical Genetics

1

1

99

Marija Mihelec

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7

Publications

338

Citations

7

H-Index

YearCitations

Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

Leisha D. Nolen, David J. Amor, Ashley Haywood,

American Journal of Medical Genetics Part A

2006

99

Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency

Marija Mihelec, R. A. Pearson, Scott Robbie,

Human Gene Therapy

2011

72

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

Rebecca Greenlees, Marija Mihelec, Saira Yousoof,

Human Molecular Genetics

2015

49

Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene

Prateek K. Buch, Marija Mihelec, Phillippa Cottrill,

PLoS ONE

2011

43

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the translocation

Robyn V. Jamieson, Nicola Farrar, Katrina Stewart,

Human Mutation

2007

33

Novel SOX2 partner-factor domain mutation in a four-generation family

Marija Mihelec, Peter Abraham, Kate Gibson,

European Journal of Human Genetics

2009

29

Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness

Linda S. Weaving, Marija Mihelec, Rebecca Storen,

Investigative Ophthalmology & Visual Science

2010

13

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