Concepedia

Aurélie Bourchany

AB

3

Publications

119

Citations

3

H-Index

2015

Active since

Affiliations

Université de Bourgogne(Current)

Hôpital Necker-Enfants Malades

Inserm

Hôpital d'Enfants

Université Paris Cité

Aurélie Bourchany is an author at Université de Bourgogne specializing in genetics, medicine, and pathogenesis.

Top concepts

Publications per year

2015–2018

3

Publications

3

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan et al. · The American Journal of Human Genetics · 2018 · 63 citations · Full text

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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany, Christel Thauvin‐Robinet, Daphné Lehalle et al. · European Journal of Medical Genetics · 2017 · 37 citations

, , +13

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

Aurélie Bourchany, Irina Giurgea, Julien Thévenon et al. · American Journal of Medical Genetics Part A · 2015 · 19 citations

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