Biochemical and metabolic genetics

163 - Liver Transplant: Promising Therapeutic Approach for Patients with Ethylmalonic Encephalopathy

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153 - Differences in Phenylalanine Levels and White Matter Changes in Three Siblings with Phenylketonuria

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171 - One Clinic’s Experience Using the Mayo Muir-Torre Syndrome Risk Scoring System
172 - Population Based Genomic Screening for Lynch Syndrome Improves Identification and Cancer Risk Reduction
173 - Polygenic Risk is Independent from the Risk Conferred by Pathogenic Variants in 12 Known Breast Cancer Genes
174 - New Perspectives on Germline Cancer Predisposition Genes for Early-onset Solid Tumors in Children, Adolescents and Young Adults (C-AYA) Patients
175 - Delineation of Complex Genomic Alterations via Iso-Seq in a Comprehensive Genomic Profiling Protocol for Pediatric Cancer
176 - Chromosomal Aberrations Causing MECOM Rearrangement In Myeloid Malignancies: Analysis Of 129 Cases
182 - Implementing Gene Curation for Hereditary Cancer Susceptibility in Australia: Achieving Consensus on Genes with Clinical Utility
185 - Join the ParaGANGlioma - More Support for FH in Hereditary PGL-PCC
190 - Characteristics and Management of Women With CHEK2 Truncating vs. Missense Mutations After Hereditary Breast and Ovarian Cancer Gene Panel Testing
191 - Prevalence of Inherited Renal Cancer and Application of the ACMG/NSGC Genetic Referral Guidelines in University of Miami from 2014-2017