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Neurology|April 17, 2015
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTORRichard J Leventer, Thomas Scerri, Ashley P L Marsh, et al.Neurology. Genetics|August 12, 2024
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.Annals of Neurology|January 6, 2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyRobert McFarland, Denise M Kirby, Kerry J Fowler, et al.BMJ Paediatrics Open|April 12, 2018
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohortLilian Downie, Jane L Halliday, Rachel A Burt, et al.Nature Genetics|October 4, 2011
Mutations in TRPV4 cause an inherited arthropathy of hands and feetShireen R Lamandé, Yuan Yuan, Irma L Gresshoff, et al.Fertility and Sterility|April 21, 2019
Health of adults aged 22 to 35 years conceived by assisted reproductive technologyJane Halliday, Sharon Lewis, Joanne Kennedy, et al.European Journal of Human Genetics : EJHG|February 8, 2018
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective studyJane L Halliday, Cecile Muller, Taryn Charles, et al.Human Mutation|August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarraysDamien L Bruno, Zornitza Stark, David J Amor, et al.Prenatal Diagnosis|December 25, 2025
Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal CareWillem Gheysen, Calder Hamill, Susan Fawcett, et al.Plos One|September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.Pageof 27