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Author/Creator Cogne, Benjamin

1. De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy. Issue 2 (5th December 2022)

Authors:
Salpietro, Vincenzo; Galassi Deforie, Valentina; Efthymiou, Stephanie; O'Connor, Emer; Marcé‐Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M.; Reich, Adi; Blevins, Amy; Sala‐Coromina, Júlia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, P. Y. Billie; S...
Journal:
Epilepsia
Issue:
Volume 64:Issue 2(2023)
Page Start:
443
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021)

Authors:
Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertra...
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3446
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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