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Animal Models of Human Birth Defects / / edited by Aimin Liu
Animal Models of Human Birth Defects / / edited by Aimin Liu
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (vii, 244 pages) : illustrations
Disciplina 616.043
Collana Advances in Experimental Medicine and Biology
Soggetto topico Diagnosis, Laboratory
Animal models in research
Molecular biology
Laboratory Medicine
Animal Models
Molecular Medicine
Malformacions
Naixement
Investigació
Experimentació animal
Soggetto genere / forma Llibres electrònics
ISBN 981-15-2389-4
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Chapter 1: Using forward and reverse genetics in mouse to study birth defects -- Chapter 2: Using animals to study neural tube defects -- Chapter 3: Using animals to study ciliopathies -- Chapter 4: Using animals to model human skeletal defects -- Chapter 5: Understanding eye defects using animal models -- Chapter 6: Modelling kidney and urinary tract defects in animals -- Chapter 7: Pancreas development and type I diabetes -- Chapter 8: Using animals to study human birth defects affecting the functions of the digestive system -- Chapter 9: Modelling human birth defects with zebrafish -- Chapter 10: Modelling diseases with C. elegans -- Chapter 11: Infectious disease and birth defects.
Record Nr. UNINA-9910409697703321
Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
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Birth defects research . Part C Embryo today : reviews
Birth defects research . Part C Embryo today : reviews
Pubbl/distr/stampa [Hoboken, N.J.], : Wiley-Liss, Inc., ©2003-2016
Descrizione fisica 1 online resource
Disciplina 612.6
Soggetto topico Abnormalities, Human - Research
Human embryo - Abnormalities
Embryo, Mammalian - abnormalities
Malformations
Embryologie
Embriologia humana
Teratologia
Malformacions
Soggetto genere / forma Computer network resources.
Periodicals.
Revistes electròniques.
ISSN 1542-9768
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Altri titoli varianti Embryo today
Embryo today, reviews
Birth defects research
Record Nr. UNINA-9910144093903321
[Hoboken, N.J.], : Wiley-Liss, Inc., ©2003-2016
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Cavernomas of the CNS : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš
Cavernomas of the CNS : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (VIII, 245 p. 124 illus., 38 illus. in color.)
Disciplina 618.3268
Soggetto topico Nervous system - Surgery
Blood-vessels - Surgery
Neurology
Neurosurgery
Vascular Surgery
Cirurgia vascular
Malformacions
Cervell
Soggetto genere / forma Llibres electrònics
ISBN 3-030-49406-3
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Brief History of Cavernous Malformations -- Definition and structure of cerebral cavernous malformations -- Molecular Biology of CCM -- Presentation -- Neuroimaging of Cerebral Cavernous Malformations -- Natural history of cavernous malformations -- Hemispherical Cavernomas in non-eloquent and eloquent areas -- Cavernoma-Related Epilepsy -- Surgery of deep-seated cavernous malformations -- Surgery of brainstem and cerebellar cavernous malformations -- Stereotactic Radiosurgery of Cavernous Malformations -- Cavernomas in children -- Cavernomas During Pregnancy -- Spinal cavernous malformations -- Intraorbital cavernous malformations.
Record Nr. UNINA-9910416101103321
Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
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Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors
Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors
Edizione [Second edition]
Pubbl/distr/stampa Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (359 pages)
Disciplina 618.928583
Soggetto topico Sex differentiation disorders
Sexual disorders
Human genetics
Pediatrics
Human Genetics
Malformacions
Aparell genital
Infants
Soggetto genere / forma Llibres electrònics
ISBN 981-13-7864-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Current debate about definitions and the incidence of DSD (Disorders of Sex Development) -- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract -- Hormones Regulating Sex Development -- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD -- 46,XX DSD -- 46,XY DSD -- Mixed Sex Chromosome and Ovo-Testicular DSD -- Non-hormonal DSD -- Multiple Malformation Syndromes in DSD -- The Neonate with Ambiguous Genitalia -- DSD Later in Childhood -- The Adolescent or Young Adult with DSD -- Imaging in DSD -- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases -- The Medical Management of DSD -- Surgical Treatment in Infancy -- Laparoscopy for DSD -- The Family -- Genetic Counselling -- Cultural Differences and Controversies about Timing of Management -- A Long-Term Outcome Study of DSD in Melbourne -- Medical Management of Adolescents and Young Adults -- Gynaecological Management -- Psychological Management in Adolescence and Beyond -- Short-, Medium- and Long-Term Outcomes Following Surgery for DSD at Royal Children’s Hospital -- Long-Term Outcome of DSD: A World View -- Psychosocial issues and mental health in DSD patients -- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients -- Perspectives of patients, families and support groups -- Additional Material .-Video .-Index.
Altri titoli varianti Disorders, differences of sex development
Record Nr. UNINA-9910409685803321
Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
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Fetal diagnosis and therapy
Fetal diagnosis and therapy
Pubbl/distr/stampa Basel ; ; New York, : S. Karger, 1991-
Descrizione fisica 1 online resource
Soggetto topico Prenatal diagnosis
Fetus - Diseases - Diagnosis
Fetus - Diseases - Treatment
Fetal Diseases - diagnosis
Fetal Diseases - therapy
Teràpia genètica
Malformacions
Soggetto genere / forma Periodicals.
Fulltext
Internet Resources.
Periodical
Revistes electròniques
ISSN 1421-9964
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Record Nr. UNISA-996200000803316
Basel ; ; New York, : S. Karger, 1991-
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Fetal diagnosis and therapy
Fetal diagnosis and therapy
Pubbl/distr/stampa Basel ; ; New York, : S. Karger, 1991-
Descrizione fisica 1 online resource
Soggetto topico Prenatal diagnosis
Fetus - Diseases - Diagnosis
Fetus - Diseases - Treatment
Fetal Diseases - diagnosis
Fetal Diseases - therapy
Teràpia genètica
Malformacions
Soggetto genere / forma Periodicals.
Fulltext
Internet Resources.
Periodical
Revistes electròniques.
ISSN 1421-9964
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Record Nr. UNINA-9910143124503321
Basel ; ; New York, : S. Karger, 1991-
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Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor
Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor
Pubbl/distr/stampa Cham, Switzerland : , : Springer, , [2021]
Descrizione fisica 1 online resource (394 pages)
Disciplina 617.5107572
Soggetto topico Head - Abnormalities
Face - Abnormalities
Malformacions
Cara
Cap
Malformacions de l'articulació temporomandibular
Soggetto genere / forma Llibres electrònics
ISBN 3-030-46024-X
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Intro -- Foreword -- Preface -- Acknowledgements -- Contents -- About the Editor -- Part I: General Aspects -- 1: The Challenge of Craniofacial Malformation Medicine in Perspective -- 1.1 Craniofacial Malformations in Arts and Media -- 1.2 Craniofacial Malformation and Societal Assessment -- 1.3 The Concept of Beauty -- 1.4 Craniofacial Malformations and Self-Assessment -- 1.5 Parental Involvement -- 1.6 Patient-Physician Communication -- 1.7 History of Facial Plastic, Reconstructive, and Cleft Surgery -- 1.8 The Evolution of Craniofacial Surgery -- 1.9 Future Directions in Craniofacial Surgery and Medicine -- 1.10 The Societal Answer Toward Facially Disfigured Persons -- 1.11 The Core -- References -- 2: Prenatal Diagnosis of Fetal Cranial Anomalies -- 2.1 Introduction -- 2.2 Embryology and Cranial Development -- 2.3 Cranial Anomalies -- 2.3.1 Craniosynostosis -- 2.3.2 Deformational Plagiocephaly -- 2.3.3 Aplasia Cutis Congenita -- 2.3.4 Encephalocele -- 2.4 Prenatal Evaluation and Management -- 2.4.1 Two-Dimensional (2D) and Three-Dimensional Ultrasound -- 2.4.2 Fetal Computed Tomography (CT) -- 2.4.3 Fetal Magnetic Resonance Imaging (MRI) -- 2.4.4 Prenatal Genetic Testing -- 2.4.5 Considerations for Delivery and Management -- 2.5 Conclusion -- References -- 3: Signal Pathways from the Plasma Membrane to the Nucleus Regulating Craniofacial Pattern Formation -- 3.1 Pattern Formation in Human Craniofacial Development -- 3.2 Signaling Pathways Regulating the Patterning and Growth of Facial Primordia -- 3.3 WNT/β-Catenin and Sonic Hedgehog Signaling in Facial Development -- 3.4 The Role of SMAD Proteins in Craniofacial Development -- 3.5 Loss-of-Function STAT3 Mutations in Hyper-IgE Syndrome -- 3.6 Design Principles of STAT3 Signaling -- 3.7 Nonclassical STAT3 Functions in Oxidative Respiration and Naïve Pluripotency.
References -- 4: The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations -- 4.1 Introduction -- 4.2 Development of the Craniofacial Complex -- 4.3 Craniofacial Dysmorphism -- 4.3.1 Dysmorphology -- 4.3.2 Malformations of the Craniofacial Complex -- 4.3.3 Craniofacial Microsomia (CFM) -- 4.4 Oral Clefts -- 4.4.1 Cleft Lip With or Without Cleft Palate -- 4.4.2 Cleft Palate (Isolated Cleft Palate, CPO) -- 4.5 Craniofacial Anomalies Induced by Teratogens -- 4.5.1 Methotrexate Embryopathy -- 4.5.2 Retinoid Embryopathy -- 4.5.3 Cyclophosphamide Embryopathy -- 4.5.4 Mycophenolate Mofetil -- 4.5.5 Valproic Acid (VPA) and Other Antiepileptic Drugs -- 4.5.6 Alcohol (Ethanol) Embryopathy -- 4.5.7 Smoking and Oral Clefts -- 4.6 Craniosynostoses and Primary Abnormalities in the Shape of the Skull -- 4.6.1 Syndromic Craniosynostoses -- 4.6.2 Specific Syndromes -- 4.6.3 Non-syndromic Craniosynostosis -- 4.7 Genetic Syndromes Affecting Extracranial Organs with Craniofacial Manifestations -- 4.8 Anomalies of Dentition and Craniofacial Malformations -- 4.9 Conclusions -- References -- 5: Morphometrics, Optical 3D Imaging, and Monitoring of Craniofacial Development and Malformations -- 5.1 Introduction -- 5.2 Cephalometry -- 5.3 Medical Applications -- 5.4 Scanning Techniques -- 5.4.1 Photogrammetry -- 5.4.2 Structure from Motion (SFM) -- 5.4.3 Structured Light -- 5.4.4 Time-of-Flight Cameras -- 5.4.5 Accuracy -- 5.5 Clinical Application -- 5.5.1 Augmented Reality -- 5.6 Radiological Detection of Facial and Cranial Structures -- 5.7 Symmetry Analysis -- 5.7.1 Cranial Vault Asymmetry Index (CVAI) -- 5.7.2 The 3D Asymmetry Index (3DAI) -- 5.7.3 Landmarks -- 5.8 Shape Analysis -- 5.8.1 Bookstein Coordinates -- 5.8.2 Procrustes Analysis.
5.8.3 Anthropometric Mask -- 5.9 Conclusion -- References -- 6: Classification of Craniofacial Malformations -- 6.1 Introduction -- 6.2 The Development of Classification Systems -- 6.3 Current Concepts of Disease Classification -- 6.4 Genetic Access to Normal and Disturbed Head Formation -- 6.5 Pathogenetic Access to Normal and Disturbed Head Formation -- 6.6 Aspects of Disease-Related Phenotype Documentation -- 6.7 Craniofacial Classification Models -- 6.8 Proposed New Classification System -- References -- Part II: Biological Basis of Disease -- 7: The Biological Basis of Chromosomal and Single Gene Disorders -- 7.1 DNA -- 7.1.1 What Are Chromosomes? -- 7.1.2 Then What Are Genes? Where Are They Located? -- 7.2 Alleles -- 7.2.1 Derivation of Fundamental Laws of Inheritance -- 7.2.2 What Are Genetic Disorders? -- 7.2.3 Single Gene Disorders -- 7.2.4 Mode of Inheritance in Single Gene Disorder -- 7.2.5 Mutations in Single Gene Disorders -- 7.3 Chromosomal Disorders -- 7.3.1 Numerical Abnormalities in Chromosomal Disorders -- 7.3.2 Structural Abnormalities in Chromosomal Disorders -- 7.3.2.1 Balanced Rearrangements -- 7.3.2.2 Unbalanced Rearrangements -- 7.4 Cancer: A Genetic Disease -- 7.4.1 Genetic Factors in Cancer -- 7.4.2 Other Contributing Factors in Cancer -- 7.5 Conclusion -- References -- 8: Fundamental Mechanisms of Orofacial Clefts -- 8.1 Introduction -- 8.2 Genetics and Signaling Mechanisms of Orofacial Clefts -- 8.2.1 Genetics of Nonsyndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2 Syndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2.1 Van der Woude Syndrome -- 8.2.2.2 Pierre Robin Sequence -- 8.2.2.3 Chromosome 22. 22q11.2 Deletion Syndrome -- 8.2.2.4 Craniofacial Ciliopathies -- 8.2.2.5 Hedgehog Signaling.
8.3 Essential Nutrients and Orofacial Clefts -- 8.3.1 Dietary Folate -- 8.3.2 Dietary Retinoids -- 8.4 Pharmaceuticals and Orofacial Clefts -- 8.4.1 Pharmaceutical Retinoids -- 8.4.2 Glucocorticoids -- 8.4.3 Anti-epileptic Drugs -- 8.5 Domestic and Occupational Exposures and Orofacial Clefts -- 8.5.1 Solvents -- 8.5.2 Pesticides -- 8.5.3 Dioxins -- 8.5.4 Polychlorinated Biphenyls and Polychlorinated Dibenzofurans -- 8.5.5 Metals -- 8.5.6 Air Pollutants -- 8.6 Parental Behavior, Metabolic Status, and Orofacial Clefts -- 8.6.1 Tobacco Smoking -- 8.6.2 Electronic Nicotine Delivery Systems -- 8.6.3 Alcohol Consumption -- 8.6.4 Metabolic Disease -- 8.7 Geography, Ethnic Influences, and Orofacial Clefts -- 8.8 Pathogens and Orofacial Clefts -- 8.9 Epigenetic Mechanisms of Orofacial Clefts -- 8.9.1 DNA Methylation -- 8.9.2 Histone Modifications -- 8.10 MicroRNAs and Orofacial Clefts -- 8.11 Conclusions and Perspectives -- References -- 9: Biological Basis of Craniosynostosis -- 9.1 Introduction -- 9.2 Syndromic Forms of Primary Craniosynostoses -- 9.2.1 Crouzon Syndrome -- 9.2.2 Apert Syndrome -- 9.2.3 Pfeiffer Syndrome -- 9.2.4 Jackson-Weiss Syndrome -- 9.2.5 Muenke Syndrome -- 9.2.6 Saethre-Chotzen Syndrome -- 9.2.7 Craniofrontonasal Syndrome -- 9.3 Non-syndromic Forms of Primary Craniosynostoses -- 9.4 Secondary Craniosynostoses -- 9.5 Conclusion -- References -- 10: Biological Basis of Branchial Arch Diseases -- 10.1 Introduction -- 10.2 Pathogenesis of Facial Development -- 10.3 Tissue and Organs Involved in Branchial Arch Diseases -- 10.3.1 Anatomical Involvement -- 10.3.1.1 Bones -- 10.3.1.2 Muscles -- 10.3.1.3 Nerves -- 10.3.2 Sensory Organs (Eyes, Ears, Tongue) -- 10.3.2.1 Ears -- 10.3.2.2 Eyes -- 10.3.2.3 Tongue -- 10.4 Branchial Arch Syndromes -- 10.4.1 Treacher Collins syndrome.
10.4.1.1 General -- 10.4.1.2 Epidemiology -- 10.4.1.3 Genetics -- 10.4.1.4 Clinical Manifestation -- 10.4.2 Hemifacial Microsomia/Oculo-auriculo-vertebral Dysplasia with Subtype Goldenhar Syndrome -- 10.4.2.1 General -- 10.4.2.2 Epidemiology -- 10.4.2.3 Genetics -- 10.4.2.4 Clinical Manifestation -- 10.4.3 Auriculocondylar Syndrome -- 10.4.3.1 General -- 10.4.3.2 Epidemiology -- 10.4.3.3 Genetics -- 10.4.3.4 Clinical Manifestation -- 10.4.4 Stickler Syndrome -- 10.4.4.1 General -- 10.4.4.2 Epidemiology -- 10.4.4.3 Genetics -- 10.4.4.4 Clinical Manifestation -- 10.4.5 DiGeorge Syndrome -- 10.4.5.1 General -- 10.4.5.2 Epidemiology -- 10.4.5.3 Genetics -- 10.4.5.4 Clinical Manifestation -- 10.4.6 Pierre Robin Syndrome/Sequence (PRS) -- 10.4.6.1 General -- 10.4.6.2 Epidemiology -- 10.4.6.3 Genetics -- 10.4.6.4 Clinical Manifestation -- 10.4.7 Acrofacial Dysostosis -- 10.4.7.1 Nager Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.2 Miller Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.3 Cincinnati Type -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- References -- 11: The Biological Basis of Craniofacially Conjoined Twins -- 11.1 Introduction -- 11.2 Epidemiology of Conjoined Twins -- 11.3 History of Conjoined Twins (Siamese Twins) -- 11.4 Types of Conjoined Twins -- 11.5 Types of Twinning in the Craniofacial Region -- 11.6 Biology of Conjoined Twinning -- 11.7 Biology of Facial Duplication -- 11.8 Early Diagnostics of Conjoined Twins -- References -- 12: Biological Basis of Craniofacial Soft Tissue Malformations -- 12.1 Introduction -- 12.2 Phakomatoses -- 12.2.1 Nevoid Basal Cell Carcinoma Syndrome (NBCCS, Gorlin-Goltz Syndrome) -- 12.2.2 Neurofibromatosis (NF) -- 12.2.3 Sturge-Weber Syndrome (SWS).
12.2.4 von Hippel-Lindau Disease (VHL).
Record Nr. UNINA-9910488697603321
Cham, Switzerland : , : Springer, , [2021]
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Teratogenesis, carcinogenesis, and mutagenesis
Teratogenesis, carcinogenesis, and mutagenesis
Pubbl/distr/stampa [New York], : [Alan R. Liss], : Wiley-Liss, Inc., ©1980-
Descrizione fisica 1 online resource
Disciplina 576
Soggetto topico Carcinogenesis
Mutagens
Teratogenic agents
Teratogens
Carcinogens
teratogens
carcinogens
mutagens
Teratogenese
Malformacions
Carcinogènesi
Mutagènesi
Soggetto genere / forma Internet resource
Periodicals.
Revistes electròniques.
ISSN 1520-6866
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Altri titoli varianti TCM
Record Nr. UNINA-9910329455403321
[New York], : [Alan R. Liss], : Wiley-Liss, Inc., ©1980-
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Teratology
Teratology
Pubbl/distr/stampa [New York, etc.], : [Teratology Society], : [Wistar Institute of Anatomy and Biology], : Wiley-Liss, ©1968-©2002
Disciplina 591
Soggetto topico Teratology
Congenital Abnormalities
Tératologie
Malformations
Malformacions
Soggetto genere / forma Periodical
Periodicals.
Revistes electròniques.
periodicals.
Périodiques.
ISSN 1096-9926
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Record Nr. UNINA-9910329456303321
[New York, etc.], : [Teratology Society], : [Wistar Institute of Anatomy and Biology], : Wiley-Liss, ©1968-©2002
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Vascular anomalies : a guide for the hematologist/oncologist / / edited by Cameron C. Trenor III, Denise M. Adams
Vascular anomalies : a guide for the hematologist/oncologist / / edited by Cameron C. Trenor III, Denise M. Adams
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (XIII, 230 p.) : 90 illus., 50 illus. in color
Disciplina 616.15
Soggetto topico Hematology
Oncology
Malalties vasculars
Malformacions
Hematologia
Oncologia
Soggetto genere / forma Llibres electrònics
ISBN 3-030-25624-3
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Nomenclature of Vascular Anomalies: Evolution to the ISSVA 2018 Classification System -- Diagnosis of Vascular Anomalies -- The Genetic Basis of Vascular Anomalies -- Sirolimus for the Treatment of Vascular Anomalies -- Infantile and Congenital Hemangiomas: Natural History, Complications, and When and How to Treat -- Kaposiform Hemangioendothelioma and Kasabach-Merritt Phenomenon: Management of Coagulopathy and Treatment Options -- Rare Vascular Tumors -- Capillary Malformations and Associated Syndromes -- Venous Malformations and Associated Syndromes: Diagnosis and Management -- Lymphatic Anomalies -- Arteriovenous Malformation -- Overgrowth Syndromes Associated with Vascular Anomalies -- Hemostasis/Thrombosis Considerations in Vascular Anomalies -- Practice Considerations for the Hematologist/Oncologist in Vascular Anomalies Clinics.
Record Nr. UNINA-9910411940303321
Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
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