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Human Mutation
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August 23, 2022
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, et al.
JAMA Neurology
|
December 22, 2018
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
Lynne Rumping, Benjamin Büttner, Oliver Maier, et al.
Brain : a Journal of Neurology
|
July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
Nature Communications
|
October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Human Mutation
|
August 23, 2022
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, et al.
JAMA Neurology
|
December 22, 2018
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
Lynne Rumping, Benjamin Büttner, Oliver Maier, et al.
Brain : a Journal of Neurology
|
July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
Nature Communications
|
October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Page
of 1