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Author/Creator Pechmeja, Jacmine

1. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification of PITX3 mutations in individuals with various ocular developmental defects. (4th May 2018)

Authors:
Zazo Seco, Celia; Plaisancié, Julie; Lupasco, Tatiana; Michot, Caroline; Pechmeja, Jacmine; Delanne, Julian; Cottereau, Edouard; Ayuso, Carmen; Corton, Marta; Calvas, Patrick; Ragge, Nicola; Chassaing, Nicolas
Journal:
Ophthalmic genetics
Issue:
Volume 39:Number 3(2018)
Page Start:
314
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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