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Author/Creator Cannata Serio, Magda

1. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. Issue 2 (22nd August 2019)

Authors:
Hubert, Laurence; Cannata Serio, Magda; Villoing-Gaudé, Laure; Boddaert, Nathalie; Kaminska, Anna; Rio, Marlène; Lyonnet, Stanislas; Munnich, Arnold; Poirier, Karine; Simons, Matias; Besmond, Claude
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 2(2020)
Page Start:
138
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Issue 6 (23rd December 2020)

Authors:
Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; R...
Journal:
Hepatology
Issue:
Volume 72:Issue 6(2020)
Page Start:
1968
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗