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Pediatric Genetics, An Issue of Pediatric Clinics of North America de Anne Slavotinek

Pediatric Genetics, An Issue of Pediatric Clinics of North America: The Clinics: Internal Medicine, cartea 70-5

Editat de Anne Slavotinek
en Limba Engleză Hardback – 13 sep 2023
In this issue, guest editors bring their considerable expertise to this important topic.
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Specificații

ISBN-13: 9780323939034
ISBN-10: 0323939031
Pagini: 240
Dimensiuni: 152 x 229 mm
Greutate: 0.48 kg
Editura: Elsevier
Seria The Clinics: Internal Medicine

Cuprins

Genetics in Pediatric Practice: From Baby Steps to Running Fast
Genetics 101: When to Refer
Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey
Supporting Parents Throughout the Genetic Testing Process and New Diagnosis
Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics
Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I
Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease
Recognizing and Managing a Metabolic Crisis
Current Practices in Pharmacogenomics
Newborn Screening
Ethical Aspects of Pediatric Genetic Care: Testing and Treatment
Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam