Search

Date 2022 Author/Creator Nizon, Mathilde

1. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022)

Authors:
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
52
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Issue 2 (24th November 2022)

Authors:
Niceta, Marcello; Pizzi, Simone; Inzana, Francesca; Peron, Angela; Bakhtiari, Somayeh; Nizon, Mathilde; Levy, Jonathan; Mancini, Cecilia; Cogné, Benjamin; Radio, Francesca Clementina; Agolini, Emanuele; Cocciadiferro, Dario; Novelli, Antonio; Salih, Mustafa A.; Recalcati, Maria Paola; Arancio, Ro...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 2(2023)
Page Start:
156
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022)

Authors:
Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
494
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases. Issue 3 (10th January 2022)

Authors:
Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Morinière, Vincent; Tournant, Carole; Audrezet, Marie‐Pierre; Michel‐Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie‐Bitach, Tania; Bessières, Bettina; Sc...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
347
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗