Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus
Madeleine Joubert, Marie Denis‐Musquer, Louise Galmiche, Anne‐Sophie Riteau et autres
1 citationClinical Genetics
Madeleine Joubert
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74Publications signalées
2425Citations signalées
7Affiliations récentes
Institutions déclarées
Domaines associés
Prenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalitiesCongenital heart defects researchMitochondrial Function and PathologyCongenital Diaphragmatic Hernia Studies
Publications récentes
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian et autres
6 citationsAnnals of Neurology
SOX2 Expression and Regulation in Pulmonary Aplasia/Agenesis
Apostolou Alexia, Madeleine Joubert, Piolat Christian, Christophe Némos et autres
0 citationsPediatric and Developmental Pathology
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder
Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik et autres
0 citationsGenetics in Medicine
Exploring postural cardiac dynamics: Insights into cardiac functionality
Victorien Faivre-Rampant, Hervé Normand, Madeleine Joubert, M. Igor et autres
0 citationsArchives of cardiovascular diseases
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, R Maroofian et autres
0 citationsDZNE Pub
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( GSS )
Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quēlin et autres
0 citationsClinical Genetics
Author response for "Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)"
Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quēlin et autres
0 citations
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, Leïla Ghesh et autres
4 citationsPrenatal Diagnosis
Author response for "Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)"
Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quēlin et autres
0 citations
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Marcello Scala, Kamal Khan, Claire Bénéteau, Rachel Fox et autres
11 citationsGenetics in Medicine
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 et autres
3 citationsArchiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
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