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Human Genetics|December 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesAldesia Provenzano, Andrea La Barbera, Mirko Scagnet, et al.Kidney International|February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosisViviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.Pageof 3