Search Results - "mutation"

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    Medical genetics at a glance by Pritchard, D. J. Dorian J, Korf, Bruce R.

    Published 2003
    Table of Contents: “…Basic biology -- The cell -- The chromosomes -- DNA structure -- DNA replication -- RNA structure -- Production of messenger RNA -- Protein synthesis -- The cell cycle -- Gametogenesis -- Embryology -- Sexual differentiation -- The place of genetics in medicine -- Chromosomal aneuploidies -- Chromosome structural abnormalities -- Mendel's laws -- Autosomal dominant inheritance -- Autosomal recessive inheritance -- Intermediate inheritance -- Sex-related inheritance -- Congenital abnormalities -- Multifactorial threshold traits -- The common disorders of adult life -- Twin studies -- Normal polymorphism -- Allele frequency -- Genetic linkage and disease association -- Gene mapping -- Mutagenesis and DNA repair -- Mutations -- The molecular biology of cancer -- Familial cancers -- Immunogenetics -- Clinical applications of genetics: an overview -- Pedigree drawing -- Risk assessment -- Dysmorphology -- Chromosome analysis -- Biochemical diagnosis -- Reproductive genetic counselling -- Prenatal sampling -- Linkage analysis -- DNA sequencing -- Southern blotting -- The polymerase chain reaction -- DNA profiling -- Avoidance an prevention of disease -- The management of genetic disease.…”
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    Pathogenesis and management of atopic dermatitis

    Published 2011
    Table of Contents: “…. -- Loss-of-function mutations within the filaggrin gene predispose to atopic dermatitis / Kawasaki, H. ... …”
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    Book
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    Concise guide to hematology

    Published 2019
    Table of Contents: “…1 Introduction to Hematology - 2 Hematopoiesis - 3 Red Blood Cell Biochemistry and Physiology - 4 Anemia: Clinical Approach - 5 Iron Deficiency - 6 Vitamin B12 (Cobalamin) and Folate Deficiency - 7 Sickle Cell Disease and the Hemoglobinopathies - 8 Congienital Hemolytic Anemias - 9 Acquired Hemolytic Anemias - 10 Physiology of Hemostasis - 11 Approach to the Bleeding Patient - 12 Congenital Bleeding Disorder - 13 Acquired Bleeding Disorder - 14 Platelet Function in Hemostasis and Inherited Disorder of Platelet Number and Function - 15 Acquired Thrombocytopenia - 16 Thrombosis - 17 Anticoagulants and Treatment of Venous Thromboembolism - 18 Antiplatelet Therapy in Cardiovascular - 19 Physiological Roles of Leukocytes and Disorder - 20 Pediatric Hematology - 21 Bone Marrow Structure and Marrow Aspiration, Biopsy, and Collectionn for Therapeutic Intent Procedures - 22 Flow Cytometry in Hematology - 23 Genetics in Hematologic Disorder: Implications of Recurring Chromosome Abnormalities and Gene Mutations - 24 Understanding Molecular Testing in Patients Affected by Hemotologic Disorder - 25 Chronic Myeloid Leukimia (CML) - 26 Myeloproliferative - 27 Myelodysplastic Syndrome (MDS) - 28 Acute Leukimia - 29 Classification of Lymphomas - 30 Clinical Evaluation and Management of Hodgkin Lymphoma - 31 Indolent Lymphomas - 32 Aggressive Lymphoma - 33 Clinical Evaluation and Management of Chronic Lymphocytic Leukimia - 34 Plasma Cell Disorder - 35 Neoplastic Hematologic Disorders in Children and Adolescents - 36 Transfusion Medicine - 37 Hematopoietic Cell Transplantation - 38 Infections in Hematology Patients - Correction to: Concise Guide to Hematology - Index…”
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    Molecular haematology

    Published 2005
    Table of Contents: “…Hemoglobinopathies due to structural mutations / Ronald L. Nagel -- Molecular coagulation and thrombophilia / Björn Dahlbäck & Andreas Hillarp -- The molecular basis of hemophilia / Paul L.F. …”
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    Pediatric endocrinology mechanisms, manifestations, and management

    Published 2004
    Table of Contents: “…[et al.] -- Consequences of mutations in pituitary transcription factor genes / John S. …”
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