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Showing results (381-390 of 393) with videos related to

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American Journal of Human Genetics|April 20, 2010
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromesErin L Heinzen, Rodney A Radtke, Thomas J Urban, et al.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature|August 13, 2013
De novo mutations in epileptic encephalopathies, , Andrew S Allen, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Genetics|December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.
Nature Genetics|March 1, 2019
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 40

Showing results (381-390 of 393) with videos related to

Sort By:
Pageof 40
American Journal of Human Genetics|April 20, 2010
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromesErin L Heinzen, Rodney A Radtke, Thomas J Urban, et al.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature|August 13, 2013
De novo mutations in epileptic encephalopathies, , Andrew S Allen, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Genetics|December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.
Nature Genetics|March 1, 2019
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 40