Concepedia

Author

Aurélie Bourchany

Université de Bourgogne

Also Known As

A Bourchany, A. Bourchany, Aurélie Bourchany, Bourchany, A., V Laugel

17

Publications

134

Citations

5

H-Index

14

Concepts

All Affiliations

Université de BourgogneHôpital Necker-Enfants MaladesInsermHôpital d'EnfantsUniversité Paris Cité
AB

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

100

2

Molecular Genetics

1

1

63

3

Obstetrics

1

1

37

4

Pathology

1

1

63

5

Clinical Genetics

1

1

63

Aurélie Bourchany

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3

Publications

119

Citations

3

H-Index

YearCitations

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

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan,

The American Journal of Human Genetics

2018

63

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

Aurélie Bourchany, Christel Thauvin‐Robinet, Daphné Lehalle,

European Journal of Medical Genetics

2017

37

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

Aurélie Bourchany, Irina Giurgea, Julien Thévenon,

American Journal of Medical Genetics Part A

2015

19

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