Showing results (81-90 of 172) with videos related to

Sort By:
Pageof 18
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
Biological Psychiatry|March 13, 2009
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disordersChristel Depienne, Daniel Moreno-De-Luca, Delphine Heron, et al.
Amino Acids|July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disordersCaroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Plos Genetics|February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects femalesChristel Depienne, Delphine Bouteiller, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
American Journal of Human Genetics|February 7, 2012
RAD51 haploinsufficiency causes congenital mirror movements in humansChristel Depienne, Delphine Bouteiller, Aurélie Méneret, et al.
Pageof 18