It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders.
Genomic Disorders
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by Lupski, James R., Stankiewicz, Pawel T. (Eds.)
Publisher: Springer
ISBN: 978-1-58829-559-0
Volumes: 1
# Pages: 426
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Error Reduction and Prevention in Surgical Pathology 2 ed
€124.79 0000662by Editors: Nakhleh, Raouf E., Volmar, Keith E. ... -
Forensic Pathology Reviews 5
€135.19 0000676by Tsokos, Michael Publisher: Springer ISBN: 978-3-642-00698-4 Volumes: 1 # Pages: 300 ... -
Categories : PATHOLOGY
Atlas of Genitourinary Pathology
€217.36 0000593by MacLennan, Gregory T., Cheng, Liang Publisher: Springer ISBN: 978-1-84882-394-5 Volumes: 1 # Pages: 398 ... -
Cytopathology of Liver, Biliary Tract, Kidney and Adrenal Gland
€62.39 0000637by Erozan, Yener S., Tatsas, Armanda Publisher: Springer ISBN: 978-1-4899-7512-6 Volumes: 1 # Pages: 190 ... -
Pathology of the Head and Neck
€238.16 0000763by Cardesa, Antonio, Slootweg, Pieter (Eds.) Publisher: Springer ISBN: 978-3-540-30628-3 Volumes: 1 # Pages: 316 ... -
Categories : PATHOLOGY
Pathology of Melanocytic Nevi and Melanoma
€176.79 0000759by Barnhill, Raymond L., Piepkorn, Michael, Busam, ... -
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Frozen Section Library: Gynecologic Pathology Intraoperative Consultation
€166.39 0000683by Coffey, Donna M., Ramzy, Ibrahim Publisher: Springer ISBN: 978-0-387-95957-3 Volumes: 1 # Pages: 240 ... -
Categories : PATHOLOGY
Pathology of the Pancreas
€135.19 0000767by Campbell, Fiona, Verbeke, Caroline S. Publisher: Springer ISBN: 978-1-4471-2448-1 Volumes: 1 # Pages: 317 ... -
Clinical and Pathological Aspects of Skin Diseases in Endocrine, Metabolic, Nutritional and Deposition Disease
€166.39 0000619by Smoller, Bruce R., Rongioletti, Franco (Eds.) Publisher: Springer ISBN: 978-1-60761-180-6 Volumes: 1 # ... -
Frozen Section Library: Pleura
€103.99 0000689by Cagle, Philip T., Allen, Timothy Craig Publisher: Springer ISBN: 978-0-387-95985-6 Volumes: 1 # ... -
Forensic Histopathology
€145.55 0000673by Dettmeyer, Reinhard Publisher: Springer ISBN: 978-3-642-20658-0 Volumes: 1 # Pages: 454 ... -
Afip 2 Non-Neoplastic Disorders of the Lower Respiratory Tract
€200.00 0000209by William D. Travis, MD Thomas V. ... -
Afip 8 Non-Neoplastic Diseases of the Central Nervous System
€150.00 0000039by David N. Louis, Matthew P. Frosch, ... -
Neuroanatomy and Pathology of Sporadic Alzheimer’s Disease
€145.59 0000747by Braak, Heiko, Del Tredici, Kelly Publisher: Springer ISBN: 978-3-319-12678-4 Volumes: 1 # Pages: 162 ... -
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Categories : PATHOLOGY
Imaging and Pathology of Pancreatic Neoplasms
€83.19 0000709by D'Onofrio, Mirko, Capelli, Paola, Pederzoli, Paolo ... -
Categories : PATHOLOGY
Frozen Section Library: Liver, Extrahepatic Biliary Tree and Gallbladder
€135.19 0000685by Yantiss, Rhonda K. (Ed.) Publisher: Springer ISBN: 978-1-4614-0042-4 Volumes: 1 # Pages: 179 ... -
Preneoplasia of the Breast: A New Conceptual Approach to Proliferative Breast Disease
€185.00 0000115by Werner Boecker Publisher: Saunders - 2006 ISBN: 9780702028922 Volumes: 1 # ... -
Handbook of Practical Immunohistochemistry
€197.59 0000698by Lin, Fan, Erb, Melissa (Eds.) Publisher: Springer ISBN: 978-1-4939-1577-4 Volumes: 1 # ... -
Clinico-Pathological Atlas of Cardiovascular Diseases
€155.99 0000622by Lucena, J.S., García-Pavía, P., Suarez-Mier, M.P., ... -
Categories : PATHOLOGY
Fundamentals of Renal Pathology
€93.59 0000691by Fogo, A., Cohen, A.H., Colvin, R.B., ... -
Afip 5 Gastrointestinal diseases
€175.00 0000219by Cecilia M. Fenoglio-Preiser, MD, Dipen Maru, ... -
Color Atlas of Immunocytochemistry in Diagnostic Cytology
€114.39 0000626by Ganjei-Azar, Parvin, Nadji, Mehrdad Publisher: Springer ISBN: 978-0-387-32121-9 Volumes: 1 # Pages: 308 ... -
Categories : PATHOLOGY
Orbital Inflammatory Diseases and Their Differential Diagnosis
€103.99 0000753by Demirci, Hakan (Ed.) Publisher: Springer ISBN: 978-3-662-46527-1 Volumes: 1 # Pages: 89 ... -
Frozen Section Library: Central Nervous System
€155.99 0000680by Prayson, Richard A., Napekoski, Karl M. Publisher: Springer ISBN: 978-1-4419-7578-2 Volumes: 1 # ... -
Categories : PATHOLOGY
Atlas on the Human Testis
€166.39 0000605by Jezek, Davor (Ed.) Publisher: Springer ISBN: 978-1-4471-2762-8 Volumes: 1 # Pages: 280 ... -
Biopsy Interpretation of the Frozen Section biopsy interpretation series
€127.00 0000572by erome B. Taxy M.D. Publisher: LWW 2009 ISBN: 9780781767798 Volumes: ... -
Frozen Section Library: Breast
€135.19 0000679by Mohsin, Syed K. Publisher: Springer ISBN: 978-1-4614-0717-1 Volumes: 1 # Pages: 112 ... -
Cardiac Tumor Pathology
€145.55 0000614by Basso, Cristina, Valente, Marialuisa, Thiene, Gaetano ... -
Afip 14 tumors of the prostate seminal vescicle penis scrotum
€170.00 0000070by Jonathan I. Epstein, MD; Antonio L. ... -
Afip 8 Tumors of the Adrenal Gland and Extra-adrenal Paraganglia
€165.00 0000234by Lack Publisher: Afip 2008 ISBN: - Volumes: 1 # Pages: - ... -
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Pathology of Pediatric Gastrointestinal and Liver Disease
€114.39 0000760by Russo, Pierre, Ruchelli, Eduardo D., Piccoli, ... -
Cerebrospinal Fluid in Clinical Neurology
€124.79 0000618by Deisenhammer, F., Sellebjerg, F., Teunissen, C.E., ... -
Scheuer’s Liver Biopsy Interpretation, 9th Edition
€129.00 0000821Author: Jay Lefkowitch Pages: 440 Trim Size: 189 X 246 ... -
Diagnostic Molecular Pathology in Practice
€51.95 0000655by Schrijver, Iris (Ed.) Publisher: Springer ISBN: 978-3-642-19676-8 Volumes: 1 # Pages: 352 ... -
Afip 18 Tumors of the Testis and Adjacent Structures
€130.00 00000228by Thomas M. Ulbright, MD and Robert ... -
Categories : PATHOLOGY
Pathology of the Vulva and Vagina
€114.35 0000768by Brown, Laurence (Ed.) Publisher: Springer ISBN: 978-0-85729-756-3 Volumes: 1 # Pages: 286 ...
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