Pediatric Genetics, An Issue of Pediatric Clinics of North America
- 1st Edition, Volume 70-5 - September 14, 2023
- Latest edition
- Editor: Anne Slavotinek
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 9 3 9 0 3 - 4
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 3 9 0 4 - 1
In this issue, guest editors bring their considerable expertise to this important… Read more
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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.
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
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
- Edition: 1
- Latest edition
- Volume: 70-5
- Published: September 14, 2023
- Language: English
AS
Anne Slavotinek
Affiliations and expertise
Professor of Clinical Pediatrics, Director, Medical Genetics and Genomics, Section Chief, Medical Genetics, Benioff Children’s Hospital Oakland, Program Director, Medical Genetics Residency, Division of Genetics, Department of Pediatrics, University of California, San Francisco, UCSF Benioff Children's Hospital