Search

Author/Creator Moortgat, Stephanie

1. Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants. Issue 7 (19th May 2021)

Authors:
Moortgat, Stephanie; Manfroid, Isabelle; Pendeville, Hélène; Freeman, Stephen; Bourdouxhe, Jordane; Benoit, Valérie; Merhi, Ahmad; Philippe, Christophe; Faivre, Laurence; Maystadt, Isabelle
Journal:
Human mutation
Issue:
Volume 42:Issue 7(2021)
Page Start:
827
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Issue 1 (29th May 2020)

Authors:
Carmignac, Virginie; Nambot, Sophie; Lehalle, Daphné; Callier, Patrick; Moortgat, Stephanie; Benoit, Valérie; Ghoumid, Jamal; Delobel, Bruno; Smol, Thomas; Thuillier, Caroline; Zordan, Cécile; Naudion, Sophie; Bienvenu, Thierry; Touraine, Renaud; Ramond, Francis; Zweier, Christiane; Reis, André; ...
Journal:
Clinical genetics
Issue:
Volume 98:Issue 1(2020)
Page Start:
43
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021)

Authors:
Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th...
Journal:
Neurology
Issue:
Volume 7:Number 6(2021)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021)

Authors:
Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th...
Journal:
Neurology
Issue:
Volume 7:Number 6(2021)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗