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Neurology|July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombinationHeather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
American Journal of Human Genetics|August 21, 2024
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of biasColin A Ellis, Karen L Oliver, Rebekah V Harris, et al.
Clinical Genetics|August 21, 2012
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weaknessNeil A Hanchard, David R Murdock, Pilar L Magoulas, et al.
Epilepsia|May 13, 2024
Familial aggregation of seizure outcomes in four familial epilepsy cohortsColin A Ellis, Danni Tu, Karen L Oliver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 18, 2019
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathyKatharina V Schulze, Amit Bhatt, Mahshid S Azamian, et al.
Molecular Autism|October 5, 2013
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)Brett S Abrahams, Dan E Arking, Daniel B Campbell, et al.
Blood Advances|December 23, 2018
A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell diseaseLesedi M Williams, Zhihua Qi, Ken Batai, et al.
Nucleic Acids Research|June 28, 2002
Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometryMelanie P Gygi, Mark D Ferguson, Heather C Mefford, et al.
Frontiers in Genetics|July 24, 2026
Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progressionMarion Amujal, John Mukisa, Eric Katagirya, et al.
Genome Research|June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseHeather C Mefford, Gregory M Cooper, Troy Zerr, et al.
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