Concepedia

Jelena Martinovic-Bouriel

JM

Statistics

Publications

2

Citations

297

H-Index

2

Active since

2007

Affiliations

Hôpital Purpan(Current)

Inserm

Hôpital Necker-Enfants Malades

Jelena Martinovic-Bouriel is an author at Hôpital Purpan specializing in pathology, craniofacial development, and molecular genetics.

Top concepts

GeneticsMedicinePathologyMolecular GeneticsCraniofacial DevelopmentPathogenesisNeurogeneticsOphthalmologyGenetic MedicineClinical Genetics

Publications per year

2007–2009

2

Publications

2

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas et al. · The American Journal of Human Genetics · 2007 · 200 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7

Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Nicolas Chassaing, Christelle Golzio, Sylvie Odent et al. · Human Mutation · 2009 · 97 citations · Full text

Ocular Disease, Genetics, Pathology +21

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