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Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Common and rare genetic variation intersects with ancestry to influence human skin and plasma carotenoid concentrationsYixing Han, Savannah Mwesigwa, Qiang Wu, et al.
Epilepsia|November 5, 2011
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud Muhle, Heather C Mefford, Tanja Obermeier, et al.
Epilepsy Research|November 20, 2013
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsiesJohanna A Jähn, Sarah von Spiczak, Hiltrud Muhle, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
Molecular Autism|October 17, 2017
Clinical phenotype of ASD-associated DYRK1A haploinsufficiencyRachel K Earl, Tychele N Turner, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|October 14, 2016
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22Heather M Byers, Margaret P Adam, Amy LaCroix, et al.
American Journal of Medical Genetics. Part A|December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsyXiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
American Journal of Human Genetics|December 31, 2005
Screening for recently selected alleles by analysis of human haplotype similarityNeil A Hanchard, Kirk A Rockett, Chris Spencer, et al.
Epilepsy Currents|January 23, 2020
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side EffectsStephen F Traynelis, Dennis Dlugos, David Henshall, et al.
Molecular Genetics and Metabolism|March 20, 2016
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiencyRoa Sadat, Emanuele Barca, Ruchi Masand, et al.
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