Clinical genetics and therapeutics

346 - Overcoming the “N of 1” Problem: Novel Disease Gene Discovery in the Undiagnosed Diseases Network

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345 - PGxTyper - A Computational Workflow to Automate the Identification and Annotation of Clinically Actionable PGx Variants  

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347 - Utility of genomic sequencing in cases of early-onset and familial dementia
348 - A Male with 45,X with a SHOX Deletion and SRY-Bearing X Chromosome: Challenges to Management Recommendations
353 - Applying the ClinGen Gene-Disease Validity Framework to the ACMG 59 and Other Medically Actionable Genes
354 - The Utility of Genetic Testing in the Treatment of Rare Diseases
356 - Novel Comorbidities and Natural History Analysis of the 17q21.31 Microdeletion Syndrome (KdVS) Through GenIDA, a Participatory International Online Database for Genetic Forms of Intellectual Disability and Autism
358 - Co-occurrence of Duchenne Muscular Dystrophy and Klinefelter’s Syndrome-A Modified Phenotype
359 - Novel DOCK7 Pathogenic Variants in Three Siblings with Epileptic Encephalopathy, Cortical Visual Impairment, and Structural Brain Abnormalities
360 - The clinical features and genotypes of neurofibromatosis type 1 patients with NF1 microdeletions
363 - Natural History of Achondroplasia: a Retrospective Study of Patients Managed by a Multispecialty Program.
368 - Oral Chelation Therapy to Treat HypermanganesemiaOral Chelation Therapy to Treat Hypermanganesemia