Emery and Rimoin's principles and practice of medical genetics and genomics : ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders /
In this volume of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, leading physicians and researchers examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms...
-д хадгалсан:
| Бусад зохиолчид: | , , |
|---|---|
| Формат: | Цахим Цахим ном |
| Хэл сонгох: | англи |
| Хэвлэсэн: |
London ; San Diego, CA:
Academic Press, an imprint of Elsevier
[2024]
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| Хэвлэл: | Seventh edition. |
| Нөхцлүүд: | |
| Онлайн хандалт: | ScienceDirect |
| Шошгууд: |
Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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MARC
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| 245 | 0 | 0 | |a Emery and Rimoin's principles and practice of medical genetics and genomics : |b ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders / |c edited by Reed E. Pyeritz, Bruce R. Korf , Wayne W. Grody. |
| 246 | 3 | 0 | |a Principles and practice of medical genetics and genomics |
| 246 | 3 | 0 | |a Medical genetics and genomics |
| 250 | |a Seventh edition. | ||
| 264 | 1 | |a London ; |a San Diego, CA: |b Academic Press, an imprint of Elsevier |c [2024] | |
| 264 | 4 | |c ©2025 | |
| 300 | |a 1 online resource (xv, 678 pages) : |b illustrations (some color). | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 340 | |p illustration |0 http://rdaregistry.info/termList/IllusContent/1014 |2 rdaill | ||
| 340 | |g polychrome |0 http://rdaregistry.info/termList/RDAColourContent/1003 |2 rdacc | ||
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Part I. Connective Tissue Disorders. Marfan Syndrome ; Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders ; Disorders of Bone Density, Volume, and Mineralization ; Osteochondrodysplasias -- Part II. Dermatologic Disorders. Abnormalities of Pigmentation ; Ichthyosiform Dermatoses ; Epidermolysis Bullosa ; Ectodermal Dysplasias ; The Genetics of Skin Cancer ; Genetics of Psoriasis ; Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub̌ (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) ; Inherited Disorders of the Hair -- Part III. Endocrinologic Disorders. Genetic Disorders of the Adrenal Gland ; Genetic Disorders of the Pituitary Gland ; Thyroid Disorders ; Diabetes Mellitus -- Part IV. Skeletal Disorders. Common Skeletal Deformities ; Hereditary Noninflammatory Arthropathies ; Abnormalities of Bone Structure ; Osteogenesis Imperfecta and Other Disorders of Bone Matrix. | |
| 520 | |a In this volume of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, leading physicians and researchers examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. |c publisher's website (viewed July 23, 2025) | ||
| 588 | |a Description based on online resource; title from digital title page (viewed on April 14, 2025). | ||
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Eye |x Diseases |x Genetic aspects. | |
| 650 | 0 | |a Head |x Diseases |x Genetic aspects. | |
| 650 | 0 | |a Skin |x Diseases |x Genetic aspects. | |
| 650 | 0 | |a Connective tissues |x Diseases |x Genetic aspects. | |
| 650 | 0 | |a Skeleton |x Diseases |x Genetic aspects. | |
| 650 | 2 | |a Genetics, Medical |0 (DNLM)D005826 | |
| 650 | 6 | |a Génétique médicale. |0 (CaQQLa)201-0001432 | |
| 650 | 6 | |a Œil |x Maladies |x Aspect génétique. |0 (CaQQLa)201-0010625 | |
| 650 | 6 | |a Tête |0 (CaQQLa)201-0031515 |x Maladies |0 (CaQQLa)201-0031515 |x Aspect génétique. |0 (CaQQLa)201-0377534 | |
| 650 | 6 | |a Peau |x Maladies |x Aspect génétique. |0 (CaQQLa)201-0115570 | |
| 650 | 6 | |a Squelette |0 (CaQQLa)201-0039762 |x Maladies |0 (CaQQLa)201-0377588 |x Aspect génétique. |0 (CaQQLa)201-0377588 | |
| 650 | 7 | |a Connective tissues |x Diseases |x Genetic aspects |2 fast |0 (OCoLC)fst00875349 | |
| 650 | 7 | |a Eye |x Diseases |x Genetic aspects |2 fast |0 (OCoLC)fst00919143 | |
| 650 | 7 | |a Medical genetics |2 fast |0 (OCoLC)fst01014133 | |
| 650 | 7 | |a Skin |x Diseases |x Genetic aspects |2 fast |0 (OCoLC)fst01120075 | |
| 655 | 4 | |a Electronic books. | |
| 700 | 1 | |a Pyeritz, Reed E., |e editor. |1 https://id.oclc.org/worldcat/entity/E39PCjDRB8FPfmBKRdd39DRfC3 | |
| 700 | 1 | |a Korf, Bruce R., |e editor. |1 https://id.oclc.org/worldcat/entity/E39PBJtrPxhVkm7thFB9YfkYyd | |
| 700 | 1 | |a Grody, Wayne W., |e editor. |1 https://id.oclc.org/worldcat/entity/E39PCjH66F8DRg3qyFtpkGVFXd | |
| 776 | 0 | 8 | |i Print version: |a Pyeritz, Reed E. |t Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics |d Chantilly : Elsevier Science & Technology,c2024 |z 9780128125311 |w (OCoLC)1518006400 |
| 856 | 4 | 0 | |3 ScienceDirect |u https://www.sciencedirect.com/science/book/9780128125311 |