Madeleine Joubert - UF 9321 de Fœtopathologie et Génétique Nantes, CHU de Nantes

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论文共 39 篇作者统计合作学者相似作者

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Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype

Jeanne Jury,Madeleine Joubert,Claudine Le Vaillant,Leila Ghesh, Pierre-Emmanuel Seguela,Ange-Line Bruel,Benjamin Cogne,Mathilde Nizon

PRENATAL DIAGNOSIS (2024)

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Multiple Congenital Anomalies in Two Fetuses with Glutathione-Synthetase Deficit (GSS)

Jeanne Jury,Jean-Francois Benoist,Madeleine Joubert,Chloe Quelin,Thomas Besnard,Solene Conrad,Claudine Le Vaillant,Stephane Bezieau,Bertrand Isidor, Tania Attie-Bitach,Benjamin Cogne,Marie Vincent

CLINICAL GENETICSno. 6 (2024): 776-781

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Biallelic Loss-of-function Variants in CACHD1 Cause a Novel Neurodevelopmental Syndrome with Facial Dysmorphism and Multisystem Congenital Abnormalities

Genetics in Medicineno. 4 (2024): 101057-101057

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Androgenetic/biparental Mosaicism in a Diploid Mole-Like Conceptus: Report of a Case with Triple Paternal Contribution

Marie Donzel,Lucie Gaillot-Durand,Madeleine Joubert,Jacqueline Aziza,Claire Beneteau,Claire Mauduit,Stéphane Ploteau,Touria Hajri,Pierre-Adrien Bolze,Jérôme Massardier,Mojgan Devouassoux-Shisheboran,Lone Sunde,Fabienne Allias

Virchows Archivno. 5 (2023): 709-715

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W Deb,M Joubert,B Cogné, M Vincent, L Ghesh,S Bézieau,C Le Vaillant,C Beneteau

European journal of medical geneticsno. 7 (2023): 104769-104769

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Loss of FOCAD, Operating Via the SKI Messenger RNA Surveillance Pathway, Causes a Pediatric Syndrome with Liver Cirrhosis

Applied Cell Biology（2023）

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Perinatal Presentations of Non‐immune Hydrops Fetalis Due to Recessive PIEZO1 Disease: A Challenging Fetal Diagnosis

Leila Ghesh,Julie Desir,Damien Haye,Pauline Le Tanno,Francoise Devillard,Benjamin Cogne,Martina Marangoni,Laura Tecco,Delphine Heron,Claudine Le Vaillant,Madeleine Joubert,Claire Beneteau

CLINICAL GENETICS（2023）

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A Gardos Channelopathy Associated with Nonimmune Hydrops and Fetal Loss

Leila Ghesh,Thomas Besnard,Madeleine Joubert,Veronique Picard,Claudine Le Vaillant,Claire Beneteau

Clinical geneticsno. 6 (2022): 543-547

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Identifying Phenotypic Expansions for Congenital Diaphragmatic Hernia Plus (CDH+) Using DECIPHER Data

American journal of medical genetics Part A（2022）

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The First Two Non‐finnish HYLS1 Variants: Expanding the Phenotypic Spectrum of Hydrolethalus Syndrome

Leila Ghesh,Marie Denis Musquer,Louise Devisme,Morgane Stichelbout,Lucile Boutaud,Nadia Elkhartoufi,Pascal Vaast,Odile Boute,Anne-Sophie Riteau,Claudine Le Vaillant,Norbert Winer,Madeleine Joubert,Stephane Bezieau,Sophie Thomas,Tania Attie-Bitach,Claire Beneteau

Clinical genetics（2021）

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