Search

Author/Creator Lecoquierre, Francois

1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016)

Authors:
Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 11(2016)
Page Start:
2847
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021)

Authors:
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
965
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021)

Authors:
Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2384
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗