Clinical genetics and therapeutics

267 - One-year Pilot Treatment Trial of Oral Nitisinone in Oculocutaneous Albinism, type 1b

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266 - Undiagnosed skeletal dysplasias after next generation sequencing tests: Is the answer performing a karyotype?

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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
278 - Evaluation of a Phenotyping App in the Detection of Known Genetic Disorders
280 - Phenotypic spectrum associated with mutations of PGAP2 in hyperphosphatasia with mental retardation syndrome-3 (HPMRS3) Mabry syndrome (OMIM 239300).
281 - Retrospective Electronic Medical Record Analysis Identifies Subjects at Risk of Hypophosphatasia; High Proportion with Concurrent Autoimmune/Endocrine Diagnoses
288 - Preliminary Insight from CADASIL Testing: Using Aggregate Patient Data to Correlate Position of Variants in NOTCH3 to Severity of Disease
291 - Roberts Individualized Medical Genetics Center Hearing Loss Clinic Experience