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20160812084646.0 |
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| 040 ## - FUENTE DE CATALOGACIÓN |
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| Original cataloging agency |
EBLCP |
| Language of cataloging |
eng |
| Description conventions |
pn |
| Transcribing agency |
EBLCP |
| Modifying agency |
OCLCQ |
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OPELS |
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GZM |
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YDXCP |
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OCLCF |
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OCLCQ |
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COO |
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OPELS |
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OCLCQ |
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VAM |
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852970522 |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| Canceled/invalid ISBN |
9780123838346 |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| Canceled/invalid ISBN |
0123838347 |
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| International Standard Book Number |
9780123838353 (electronic bk.) |
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| International Standard Book Number |
0123838355 (electronic bk.) |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) |
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| OCLC library identifier |
AU@ |
| System control number |
000050859285 |
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| OCLC library identifier |
DEBSZ |
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381682544 |
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NZ1 |
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15188275 |
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| OCLC library identifier |
NLGGC |
| System control number |
389626813 |
| 050 #4 - SIGNATURA TOPOGRÁFICA DE LA BIBLIOTECA DEL CONGRESO |
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| Classification number |
RB155 |
| Item number |
.E53 |
| 082 04 - NÚMERO DE CLASIFICACIÓN DECIMAL DEWEY |
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| Classification number |
616.042 |
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616/.042 |
| 049 ## - LOCAL HOLDINGS (OCLC) |
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| Holding library |
TEFA |
| 245 00 - MENCIÓN DE TITULO |
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| Title |
Emery and Rimoin's principles and practice of medical genetics |
| Medium |
[recurso electrónico] / |
| Statement of responsibility, etc. |
edited by David L. Rimoin, Reed E. Pyeritz and Bruce Korf. |
| 246 3# - FORMA VARIANTE DEL TITULO |
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| Title proper/short title |
Principles and practice of medical genetics |
| 250 ## - MENCIÓN DE EDICIÓN |
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| Edition statement |
[6th ed.]. |
| 260 ## - PUBLICACIÓN, DISTRIBUCIÓN, ETC. (PIE DE IMPRENTA) |
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| Place of publication, distribution, etc. |
San Diego : |
| Name of publisher, distributor, etc. |
Elsevier Science, |
| Date of publication, distribution, etc. |
2013. |
| 300 ## - DESCRIPCIÓN FÍSICA |
|---|
| Extent |
1 online resource : |
| Other physical details |
illustrations |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 504 ## - NOTA DE BIBLIOGRAFÍA, ETC. |
|---|
| Bibliography, etc |
Includes bibliographical references. |
| 505 0# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
History of Medical Genetics -- Medicine in a Genetic Context -- Nature and Frequency of Genetic Disease -- Genomics and Proteomics -- Genome and Gene Structure -- Epigenetics -- Human Gene Mutation in Inherited Disease -- Genes in Families -- Analysis of Genetic Linkage -- Chromosomal Basis of Inheritance -- Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging -- Multifactorial Inheritance and Complex Diseases -- Population Genetics -- Pathogenetics of Disease -- Human Developmental Genetics -- Twins and Twinning -- The Molecular Biology of Cancer -- The Biological Basis of Aging: Implications for Medical Genetics -- Pharmacogenetics and Pharmacogenomics -- Genetic Evaluation for Common Diseases of Adulthood -- Genetic Counseling and Clinical Risk Assessment -- Cytogenetic Analysis -- Diagnostic Molecular Genetics -- Heterozygote Testing and Carrier Screening -- Prenatal Screening for Neural Tube Defects and Aneuploidy -- Techniques for Prenatal Diagnosis -- Neonatal Screening -- Therapies for Lysosomal Storage Diseases -- Gene Therapy: From Theoretical Potential to Clinical Implementation -- Ethical and Social Issues in Clinical Genetics -- Legal Issues in Genetic Medicine -- Genetics of Female Infertility in Humans -- Genetics of Male Infertility -- Fetal Loss -- A Clinical Approach to the Dysmorphic Child -- Clinical Teratology -- Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism -- Abnormal Body Size and Proportion -- Susceptibility and Response to Infection -- Transplantation Genetics -- The Genetics of Disorders Affecting the Premature Newborn -- Disorders of DNA Repair and Metabolism -- Autosomal Trisomies -- Sex-Chromosome Abnormalities -- Deletions and Other Structural Abnormalities of the Autosomes Congenital Heart Defects -- Inherited Cardiomyopathies -- Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension -- Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) -- Hereditary Disorders of the Lymphatic System and Varicose Veins -- |
| 505 0# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
The Genetics of Cardiac Electrophysiology in Humans -- Genetics of Blood Pressure Regulation -- Preeclampsia -- Common Genetic Determinants of Coagulation and Fibrinolysis -- Genetics of Atherosclerotic Cardiovascular Disease -- Disorders of the Venous System -- Capillary Malformation/Arteriovenous Malformation -- Cystic Fibrosis -- Genetic Underpinnings of Asthma and Related Traits -- Hereditary Pulmonary Emphysema -- Interstitial and Restrictive Pulmonary Disorders -- Congenital Anomalies of the Kidney and Urinary Tract -- Cystic Diseases of the Kidney -- Nephrotic Disorders -- Renal Tubular Disorders -- Cancer of the Kidney and Urogenital Tract -- Gastrointestinal Tract and Hepatobiliary Duct System -- Inflammatory Bowel Disease -- Bile Pigment Metabolism and Its Disorders -- Cancer of the Colon and Gastrointestinal Tract -- Hemoglobinopathies and Thalassemias -- Other Hereditary Red Blood Cell Disorders -- Hemophilias and Other Disorders of Hemostasis -- Rhesus and Other Fetomaternal Incompatibilities -- Leukemias, Lymphomas, and Other Related Disorders -- Immunologic Disorders: Genetics and Immunologic Mechanisms -- Systemic Lupus Erythematosus -- Rheumatoid Disease and Other Inflammatory Arthropathies -- Amyloidosis and Other Protein Deposition Diseases -- Immunodeficiency Disorders -- Inherited Complement Deficiencies -- Disorders of Leukocyte Function -- Genetic Disorders of the Pituitary Gland -- Thyroid Disorders -- Parathyroid Disorders -- Diabetes Mellitus -- Genetic Disorders of the Adrenal Gland -- Disorders of the Gonads, Genital Tract, and Genitalia -- Cancer of the Breast and Female Reproductive Tract -- Disorders of the Body Mass -- Genetic Lipodystrophies -- Amino Acid Metabolism -- Disorders of Carbohydrate Metabolism -- Congenital Disorders of Protein Glycosylation -- Purine and Pyrimidine Metabolism -- Lipoprotein and Lipid Metabolism -- Organic Acidemias and Disorders of Fatty Acid Oxidation -- Vitamin D Metabolism or Action -- Inherited Porphyrias -- Inherited Disorders of Human Copper Metabolism -- |
| 505 0# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
Iron Metabolism and Related Disorders -- Mucopolysaccharidoses -- Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses -- Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesteryl Ester Storage Disease, and Cerebrotendinous Xanthomatosis) -- Peroxisomal Disorders -- The Genetics of Personality -- Fragile X Syndrome and X-linked Intellectual Disability -- Dyslexia and Related Communication Disorders -- Attention-Deficit/Hyperactivity Disorder -- Autism Spectrum Disorders -- Genetics of Alzheimer Disease -- Schizophrenia and Affective Disorders -- Addictive Disorders -- Neural Tube Defects -- Genetic Disorders of Cerebral Cortical Development -- Genetic Aspects of Human Epilepsy -- Basal Ganglia Disorders -- The Hereditary Ataxias -- Hereditary Spastic Paraplegia -- Autonomic and Sensory Disorders -- The Phakomatoses -- Multiple Sclerosis and Other Demyelinating Disorders -- Genetics of Stroke -- Primary Tumors of the Nervous System -- Muscular Dystrophies -- Hereditary Motor and Sensory Neuropathies -- Congenital (Structural) Myopathies -- Spinal Muscular Atrophies -- Hereditary Muscle Channelopathies -- Myotonic Dystrophies -- Hereditary and Autoimmune Myasthenias -- Motor Neuron Disease -- Color Vision Defects -- Optic Atrophy -- Glaucoma -- Defects of the Cornea -- Congenital Cataracts and Genetic Anomalies of the Lens -- Hereditary Retinal and Choroidal Dystrophies -- Strabismus -- Retinoblastoma and the RB₁ Cancer Syndrome -- Anophthalmia, Microphthalmia, and Uveal Coloboma -- Hereditary Hearing Impairment -- Clefting, Dental, and Craniofacial Syndromes -- Craniosynostosis -- Abnormalities of Pigmentation -- Ichthyosiform Dermatoses -- Epidermolysis Bullosa -- Ectodermal Dysplasias -- Skin Cancer -- Psoriasis -- Cutaneous Hamartoneoplastic Disorders -- Inherited Disorders of the Hair -- Marfan Syndrome and Related Disorders -- Ehlers-Danlos Syndrome -- Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders -- Osteogenesis Imperfecta (and Other Disorders of Bone Matrix) -- Disorders of Bone Density, Volume, and Mineralization -- Chondrodysplasias -- Abnormalities of Bone Structure -- The Dysostoses -- Arthrogryposes (Multiple Congenital Contractures) -- Common Skeletal Deformities -- Hereditary Noninflammatory Arthropathies -- Pathways-Cohesinopathies -- Genes and Mechanisms in Human Ciliopathies. |
| 520 ## - NOTA DE RESUMEN, ETC. |
|---|
| Summary, etc. |
For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. |
| 588 ## - SOURCE OF DESCRIPTION NOTE |
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| Source of description note |
Description based on print version record. |
| 596 ## - |
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| -- |
19 |
| 650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Medical genetics. |
| 650 12 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Genetics, Medical. |
| 650 12 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Genetic Diseases, Inborn. |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Medical genetics. |
| Source of heading or term |
fast |
| Authority record control number |
(OCoLC)fst01014133 |
| 655 #4 - |
|---|
| -- |
Electronic books. |
| 700 1# - ASIENTO SECUNDARIO - NOMBRE PERSONAL |
|---|
| Personal name |
Pyeritz, Reed E. |
| 700 1# - ASIENTO SECUNDARIO - NOMBRE PERSONAL |
|---|
| Personal name |
Rimoin, David L., |
| Dates associated with a name |
1936-2012. |
| 700 1# - ASIENTO SECUNDARIO - NOMBRE PERSONAL |
|---|
| Personal name |
Korf, Bruce R. |
| 700 1# - ASIENTO SECUNDARIO - NOMBRE PERSONAL |
|---|
| Personal name |
Emery, Alan E. H. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Print version: |
| Main entry heading |
Rimoin, David L. |
| Title |
Emery and Rimoin's Principles and Practice of Medical Genetics. |
| Place, publisher, and date of publication |
San Diego : Elsevier Science, 2013 |
| International Standard Book Number |
9780123838346 |
| 856 40 - LOCALIZACIÓN Y ACCESO ELECTRÓNICOS |
|---|
| Public note |
Libro electrónico |
| Materials specified |
ScienceDirect |
| Uniform Resource Identifier |
<a href="http://148.231.10.114:2048/login?url=http://www.sciencedirect.com/science/book/9780123838346">http://148.231.10.114:2048/login?url=http://www.sciencedirect.com/science/book/9780123838346</a> |
| 942 ## - TIPO DE MATERIAL (KOHA) |
|---|
| Koha item type |
Libro Electrónico |
