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Author/Creator Robin, Nathaniel H

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 missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. Issue 2 (7th July 2016)

Authors:
Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan,...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 2(2017)
Page Start:
84
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗