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The Clinical Neuropsychologist|July 5, 2011
Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive testsElizabeth T Cirulli, Deborah K Attix, Patrick J Smith, et al.
American Journal of Human Genetics|August 6, 2003
Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mappingMike E Weale, Chantal Depondt, Stuart J Macdonald, et al.
Epilepsia|April 18, 2007
Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsyNicole Soranzo, Libusha Kelly, Lillian Martinian, et al.
Iscience|January 3, 2023
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic miceAndrew K Ressler, Gabriela L A Sampaio, Sarah A Dugger, et al.
Cerebral Cortex (New York, N.Y. : 1991)|July 31, 2009
COMT val108/158 met genotype affects neural but not cognitive processing in healthy individualsNancy A Dennis, Anna C Need, Kevin S LaBar, et al.
Ophthalmic Genetics|October 3, 2019
Modification of the PROM1 disease phenotype by a mutation in ABCA4Winston Lee, Maarjaliis Paavo, Jana Zernant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2019
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variantsCharles J Wolock, Nicholas Stong, Chu Jian Ma, et al.
Plos Genetics|February 3, 2026
Rare heterozygous missense variants in VSX2 are associated with retinal detachmentDaniel C Brock, Justin S Dhindsa, Yifan Chen, et al.
American Journal of Human Genetics|April 5, 2011
A genome-wide comparison of the functional properties of rare and common genetic variants in humansQianqian Zhu, Dongliang Ge, Jessica M Maia, et al.
Genomics|August 2, 2011
A whole-genome analysis of premature termination codonsElizabeth T Cirulli, Erin L Heinzen, Fred S Dietrich, et al.
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