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Date 2018 Author/Creator Pacault, Mathilde

1. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018)

Authors:
Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
788
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome. (December 2018)

Authors:
Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, S...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1784
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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