Showing results (51-60 of 102) with videos related to

Sort By:
Pageof 11
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
European Journal of Medical Genetics|April 13, 2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU geneAlmuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
American Journal of Human Genetics|August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Annals of Neurology|March 5, 2014
DEPDC5 mutations in genetic focal epilepsies of childhoodDennis Lal, Eva M Reinthaler, Julian Schubert, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
Pageof 11