Pediatric Genetics, An Issue of Pediatric Clinics of North America
Slavotinek, Anne
In this issue, guest editors bring their considerable expertise to this important topic. INDICE: Genetics in Pediatric Practice: From Baby Steps to Running FastGenetics 101: When to ReferPanels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic OdysseySupporting Parents Throughout the Genetic Testing Process and New DiagnosisDownstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and MetabolomicsShedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type IShedding New Light: Novel Therapies for Achondroplasia and Growth DisordersSpinal Muscular Atrophy: A (Now) Treatable Neurodegenerative DiseaseRecognizing and Managing a Metabolic CrisisCurrent Practices in PharmacogenomicsNewborn ScreeningEthical Aspects of Pediatric Genetic Care: Testing and TreatmentEssential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam
- ISBN: 978-0-323-93903-4
- Editorial: Elsevier
- Encuadernacion: Cartoné
- Páginas: 240
- Fecha Publicación: 14/09/2023
- Nº Volúmenes: 1
- Idioma: Inglés