Maud Favier

6PUBLICATIONS
6CO-AUTHORS
Automotive combustion and fuel engineeringGene and molecular therapyFoetal development and medicineEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (6)

|Jan 17, 2025
Respiratory failure as main presentation sign of MAPT-related disorder.

Maud Favier, Maité Formaglio, Anne Cosson

|Nov 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Maud Favier, Elise Brischoux-Boucher, Louise C Pyle

|Jun 26, 2024
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.

Pierre-Louis Forey, Maud Favier, Claire Beneteau

|Jun 26, 2024
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Maud Favier, Rodolph Dard, Guillaume Gorincour

|Feb 11, 2024
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Maud Favier, Julian Delanne, Guillaume Gorincour

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Frequent Collaborators

2 joint publications

Frédéric Tran Mau-Them

1 joint publications

Pierre-Louis Forey

1 joint publications

Julie Cattin

1 joint publications

Malou Heijligers