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A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Verbsky, Bacino, Slavotinek, Gropman, and Rahman, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases—offering in-depth content on a topic often just touched on in other pediatric textbooks. Written by the most prominent experts from around the world, this definitive text is an indispensable resource for any clinician treating pediatric patients. Key Features Reflects the importance of genetic understanding and genetic diagnosis as the current approach to rare diseases Organizes content around anatomical systems, with concise chapters that cover discrete disorders and conditions Focuses on diagnosis and management, describing the clinical, laboratory, imaging, and genetic diagnostic features in every chapter to help differentiate disorders with similar symptoms or phenotypes Contains numerous figures, algorithms, tables, photographs, and radiographic images for enhanced visual guidance Includes chapters devoted to topics such as Ciliopathies, Neurodegeneration with Brain Iron Accumulation, Cancer Susceptibility Syndromes, Mitochondrial Disorders, Interferonopathies, and Epigenomic and Imprinting Syndromes, and others covering dysmorphology, neurologic, metabolic, genetic, and immune disorders Shares the knowledge and experience of editors who are leaders in the field of rare diseases in both the U.S. and Europe. Among the talented editors, Dr. Palau is editor-in-chief of Orphanet Journal of Rare Diseases and the first scientific director of CIBERER, the Spanish network of excellence in rare diseases. Dr. Basel is the medical director of the Genetics and Genomics Program at Children’s Wisconsin, named a Center of Excellence by the National Organization for Rare Disorders (NORD) A unique, comprehensive resource for pediatric specialists, pediatric hospitalists, pediatric fellows, geneticists, and general pediatricians, and an ideal companion volume to Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics and Nelson Textbook of Pediatrics An eBook version is included with purchase. The eBook allows you to access all of the text, figures, and references, with the ability to search, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish after the publication date Author Information Robert Kliegman,Professor and Chair Emeritus, Department of Pediatrics - Medical College of Wisconsin Nelson Undiagnosed and Rare Disease Program, USA;Francesc (Paco) Palau,Editor-in-Chief, Orphanet Journal of Rare Diseases, CSIC Research Professor, and SJD Distinguished Investigator, Sant Joan de Déu Research Institute and Former Head, Department of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital, Spain

pediatric books

Nelson Pediatric Textbook of Rare Diseases, 1st Edition

$25.00
Atlas of Pediatric Emergency Medicine, Third Edition (Original PDF from Publisher)

pediatric books

Atlas of Pediatric Emergency Medicine, Third Edition (Original PDF from Publisher)

$20.00
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Rogers’ Textbook of Pediatric Intensive Care, 6th edition (Original PDF from Publisher)

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Rogers’ Textbook of Pediatric Intensive Care, 6th edition (Original PDF from Publisher)

Original price was: $296.00.Current price is: $60.00.
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Manual for Palliative Care

INTERNAL MEDICINE BOOKS

Oh’s Intensive Care Manual

Original price was: $39.99.Current price is: $10.00.
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Neuropediatría: Fundamentos prácticos (Original PDF from Publisher)

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Neuropediatría: Fundamentos prácticos (Original PDF from Publisher)

Original price was: $252.67.Current price is: $50.00.
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Avances en Diagnóstico por Imágenes: Ecografía Pediátrica (Original PDF from Publisher)

Radiology books

Avances en Diagnóstico por Imágenes: Ecografía Pediátrica (Original PDF from Publisher)

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Pediatría, 3e Edición, Tomo I (Original PDF from Publisher)

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Pediatría, 3e Edición, Tomo I (Original PDF from Publisher)

Original price was: $234.31.Current price is: $15.00.
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Manual of Pediatric Nutrition, 6th edition (EPUB)

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Manual of Pediatric Nutrition, 6th edition (EPUB)

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Stocker and Dehner’s Pediatric Pathology, 5th Edition (Original PDF from Publisher)

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Stocker and Dehner’s Pediatric Pathology, 5th Edition (Original PDF from Publisher)

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Nelson Pediatric Textbook of Rare Diseases

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Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis (True PDF)

Original price was: $109.99.Current price is: $17.00.
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Pediatric Hematology-Oncology Rapid Review Flash Cards (EPUB)

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Pediatric Hematology-Oncology Rapid Review Flash Cards (EPUB)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis, 9th edition (True PDF)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis, 9th edition (True PDF)

Original price was: $179.99.Current price is: $15.00.
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Anderson’s Pediatric Cardiology, 5th edition (EPUB)

Cardiology books

Anderson’s Pediatric Cardiology, 5th edition (EPUB)

Original price was: $367.99.Current price is: $40.00.
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MacDonald’s Atlas of Procedures in Neonatology, 7th edition (EPUB)

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MacDonald’s Atlas of Procedures in Neonatology, 7th edition (EPUB)

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Pediatric Diagnostic Medicine

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Pediatric Diagnostic Medicine: A Collection of Cases (High Quality Scanned PDF)

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Nelson Pediatric Textbook of Rare Diseases

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Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis (EPUB)

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Infectología Pediátrica (Original PDF from Publisher)

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Infectología Pediátrica (Original PDF from Publisher)

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Dermatoscopia pediatrica (Scanned PDF)

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Dermatoscopia pediatrica (Scanned PDF)

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Manual de Neurología Infantil, 3a Edición (Original PDF from Publisher)

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Manual de Neurología Infantil, 3a Edición (Original PDF from Publisher)

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Manual de Cuidados Intensivos Pediátricos, 6a edición (Original PDF from Publisher)

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Manual de Cuidados Intensivos Pediátricos, 6a edición (Original PDF from Publisher)

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Casos Clínicos en el Tratamiento Ortodóntico Temprano (Scanned PDF)

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Casos Clínicos en el Tratamiento Ortodóntico Temprano (Scanned PDF)

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Nelson Essentials of Pediatrics, 10th edition (Original PDF from Publisher)

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Nelson Essentials of Pediatrics, 10th edition (Original PDF from Publisher)

Original price was: $94.99.Current price is: $30.00.
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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis, 9th edition (EPUB)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis, 9th edition (EPUB)

Original price was: $179.00.Current price is: $35.00.
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Fanaroff and Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant, 2-Volume Set, 12th edition (Original PDF from Publisher)

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Fanaroff and Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant, 2-Volume Set, 12th edition (Original PDF from Publisher)

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