Anne Slavotinek
Elsevier Health Sciences
e druk, 2023
9780323939034
Pediatric Genetics, An Issue of Pediatric Clinics of North America
Specificaties
Gebonden, blz.
|
Engels
Elsevier Health Sciences |
e druk, 2023
ISBN13: 9780323939034
Rubricering
Onderdeel van serie
The Clinics: Internal Medicine
Levertijd ongeveer 8 werkdagen
Samenvatting
In this issue, guest editors bring their considerable expertise to this important topic.
Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice.
Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Specificaties
Inhoudsopgave
Genetics in Pediatric Practice: From Baby Steps to Running Fast<br>Genetics 101: When to Refer<br>Panels, Exomes, Genomes, and More—Finding the Best Path Through the Diagnostic Odyssey<br>Supporting Parents Throughout the Genetic Testing Process and New Diagnosis<br>Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics<br>Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I<br>Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders<br>Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease<br>Recognizing and Managing a Metabolic Crisis<br>Current Practices in Pharmacogenomics<br>Newborn Screening<br>Ethical Aspects of Pediatric Genetic Care: Testing and Treatment<br>Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam