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Author/Creator Brilstra, Eva H

1. Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing. Issue 2 (27th October 2018)

Authors:
de Lange, Iris M; Koudijs, Marco J; van 't Slot, Ruben; Sonsma, Anja C M; Mulder, Flip; Carbo, Ellen C; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Savelberg, Sanne M C; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 2(2019)
Page Start:
75
Record Type:
Journal Article
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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
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Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. Issue 12 (29th June 2016)

Authors:
de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Car...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 12(2016)
Page Start:
850
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗