TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

por Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Publicado 2015

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

por Sloboda, Natacha, Sorlin, Arthur, Valduga, Mylène, Beri-Dexheimer, Mylène, Bilbault, Claire, Fouyssac, Fanny, Becker, Aurélie, Lambert, Laëtitia, Bonnet, Céline, Leheup, Bruno
Publicado 2019

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin

por Kleinfinger, Pascale, Luscan, Armelle, Descourvieres, Léa, Buzas, Daniela, Boughalem, Aicha, Serero, Stéphane, Valduga, Mylène, Trost, Detlef, Costa, Jean-Marc, Vivanti, Alexandre J., Lohmann, Laurence
Publicado 2022

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

por Kleinfinger, Pascale, Lohmann, Laurence, Luscan, Armelle, Trost, Detlef, Bidat, Laurent, Debarge, Véronique, Castaigne, Vanina, Senat, Marie-Victoire, Brechard, Marie-Pierre, Guilbaud, Lucie, Le Guyader, Gwenaël, Satre, Véronique, Laurichesse Delmas, Hélène, Lallaoui, Hakima, Manca-Pellissier, Marie-Christine, Boughalem, Aicha, Valduga, Mylene, Hodeib, Farah, Benachi, Alexandra, Costa, Jean Marc
Publicado 2020