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Prenatal Diagnosis|August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External PhenotypeJeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
European Journal of Medical Genetics|February 20, 2008
Inherited 18q23 duplication in a fetus with multiple congenital anomaliesBertrand Isidor, Norbert Winer, Madeleine Joubert, et al.
Clinical Genetics|November 18, 2025
Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn FetusJulie Baron, Madeleine Joubert, Marie Denis-Musquer, et al.
American Journal of Medical Genetics. Part A|July 8, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12ATanguy Niclass, Gwenael Le Guyader, Claire Beneteau, et al.
Plos One|April 16, 2014
Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of placenta accretaAnne-Sophie Riteau, Mikael Tassin, Guillemette Chambon, et al.
Clinical Genetics|December 1, 2022
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosisLeïla Ghesh, Julie Désir, Damien Haye, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Virchows Archiv : an International Journal of Pathology|September 11, 2023
Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contributionMarie Donzel, Lucie Gaillot-Durand, Madeleine Joubert, et al.
Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutationsBertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, et al.
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