Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders
Editat de Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grodyen Limba Engleză Hardback – 22 oct 2024
In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye.
With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.
- Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics
- Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision
- Includes color images supporting identification, concept illustration, and method processing
- Features contributions by leading international researchers and practitioners of medical genetics
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Specificații
ISBN-13: 9780128152348
ISBN-10: 0128152346
Pagini: 544
Dimensiuni: 191 x 235 x 34 mm
Greutate: 1.24 kg
Ediția:7
Editura: ELSEVIER SCIENCE
ISBN-10: 0128152346
Pagini: 544
Dimensiuni: 191 x 235 x 34 mm
Greutate: 1.24 kg
Ediția:7
Editura: ELSEVIER SCIENCE
Cuprins
1. Human Developmental Genetics
Wen-Hann Tan
2. Clefting, Dental, and Craniofacial Syndromes
Piranit Nik Kantaputra and Mary L. Marazita
3. Craniosynostosis
Amy Feldman Lewanda, Ethylin Wang Jabs and Pedro Alfonso Sanchez-Lara
4. Autosomal Trisomies
Shahad Salman, Nathaniel H. Robin, Fady M. Mikhail and Angela Seasely
5. Sex-Chromosome Abnormalities
Claus H. Gravholt
6. Deletions and Other Structural Abnormalities of the Autosomes
Laura K. Conlin, Ada J.S. Chan, Beverly S. Emanuel and Nancy B. Spinner
7. Hereditary Hearing Impairment
Arti Pandya
8. Color Vision Defects
Maureen Neitz and Jay Neitz
9. Optic Atrophy
Suzie Kim, Grace Shih and Brian P. Brooks
10. Glaucoma
Janey L. Wiggs
11. Genetic disorders of the cornea
Mohammad A. Bakr, Elmer Tu, Joel Sugar and V. Vinod Mootha
12. Inherited Cataracts and Other Genetic Disorders of the Lens
Alan Shiels and J. Fielding Hejtmancik
13. Inherited retinal and choroidal dystrophies
Suma P. Shankar
14. Genetics of Strabismus
J. Bronwyn Bateman and Sherwin J. Isenberg
15. Anophthalmia, Microphthalmia, and Uveal Coloboma
Paige M. Brooks and Brian P. Brooks
Wen-Hann Tan
2. Clefting, Dental, and Craniofacial Syndromes
Piranit Nik Kantaputra and Mary L. Marazita
3. Craniosynostosis
Amy Feldman Lewanda, Ethylin Wang Jabs and Pedro Alfonso Sanchez-Lara
4. Autosomal Trisomies
Shahad Salman, Nathaniel H. Robin, Fady M. Mikhail and Angela Seasely
5. Sex-Chromosome Abnormalities
Claus H. Gravholt
6. Deletions and Other Structural Abnormalities of the Autosomes
Laura K. Conlin, Ada J.S. Chan, Beverly S. Emanuel and Nancy B. Spinner
7. Hereditary Hearing Impairment
Arti Pandya
8. Color Vision Defects
Maureen Neitz and Jay Neitz
9. Optic Atrophy
Suzie Kim, Grace Shih and Brian P. Brooks
10. Glaucoma
Janey L. Wiggs
11. Genetic disorders of the cornea
Mohammad A. Bakr, Elmer Tu, Joel Sugar and V. Vinod Mootha
12. Inherited Cataracts and Other Genetic Disorders of the Lens
Alan Shiels and J. Fielding Hejtmancik
13. Inherited retinal and choroidal dystrophies
Suma P. Shankar
14. Genetics of Strabismus
J. Bronwyn Bateman and Sherwin J. Isenberg
15. Anophthalmia, Microphthalmia, and Uveal Coloboma
Paige M. Brooks and Brian P. Brooks