Clinical genetics and therapeutics

258 - De novo missense variants in GARS cause severe early-onset Spinal Muscular Atrophy —Implications for diagnosis and treatment

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254 - Pre-authorization for Whole Exome Sequencing: One Center’s Experience

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261 - Increasing Awareness and Earlier Testing for Mucopolysaccharidoses to Improve Patient Outcomes: Updated Results from Simply Test for MPS™ Enzyme-Panel Program
264 - Orthopaedic Manifestations in Cohen Syndrome: A Review of 34 Patients
265 - MALODYC syndrome: Novel X-linked Disorder of Transcriptional Regulation Characterized by lntellectual Disability and Marfanoid Habitus
266 - Undiagnosed skeletal dysplasias after next generation sequencing tests: Is the answer performing a karyotype?
267 - One-year Pilot Treatment Trial of Oral Nitisinone in Oculocutaneous Albinism, type 1b
269 - Advances in Technology Improve Diagnosis of Phelan-McDermid Syndrome, Leading to Better Understanding of the Disorder’s Presentation
270 - Disease Manifestations and Asfotase Alfa Treatment Outcomes by ALPL Variant Class in Adolescents and Adults with Hypophosphatasia
272 - Concordance Analysis on Products of Conception Samples Reveals Monozygotic Twin Gestations with Discrepant Chromosome Findings
274 - Two-Year Real-World Effectiveness of Oral Eliglustat in Treatment-Naïve and Switch Patients Enrolled in the International Collaborative Gaucher Group Gaucher Registry
277 - DEVELOPMENTAL GENOME ANATOMY PROJECT (DGAP): A two decades hub for gene discovery and the flourishing of sequencing in cytogenetics