Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
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(FIVE YEARS 22)

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Published By Elsevier

9780128125359

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Front Matter

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.01001-3 ◽

2021 ◽

pp. iii

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Iron Metabolism and Related Disorders

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00012-1 ◽

2021 ◽

pp. 445-499

Author(s):

Yelena Z. Ginzburg ◽

Karin E. Finberg

Keyword(s):

Iron Metabolism

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Inherited Porphyrias

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00010-8 ◽

2021 ◽

pp. 373-411

Author(s):

Robert J. Desnick ◽

Manisha Balwani ◽

Karl E. Anderson

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Genetics of Mitochondrial Respiratory Chain Disease

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00016-9 ◽

2021 ◽

pp. 709-737

Author(s):

Rebecca D. Ganetzky ◽

Marni J. Falk

Keyword(s):

Respiratory Chain ◽

Mitochondrial Respiratory Chain ◽

Mitochondrial Respiratory

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Lipoprotein and Lipid Metabolism

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00007-8 ◽

2021 ◽

pp. 235-278

Author(s):

Robert A. Hegele

Keyword(s):

Lipid Metabolism

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Vitamin D Metabolism or Action

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00009-1 ◽

2021 ◽

pp. 335-372

Author(s):

Elizabeth A. Streeten ◽

Michael A. Levine

Keyword(s):

Vitamin D ◽

Vitamin D Metabolism

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Disorders Affecting Glycosylation

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00005-4 ◽

2021 ◽

pp. 157-181

Author(s):

Hudson H. Freeze ◽

Bobby G. Ng ◽

Lynne A. Wolfe

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Disorders of the Body Mass

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00001-7 ◽

2021 ◽

pp. 1-24

Author(s):

Omar Ali ◽

Alvina Kansra ◽

Patricia A. Donohoue

Keyword(s):

Body Mass ◽

The Body

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Disorders of Carbohydrate Metabolism

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00004-2 ◽

2021 ◽

pp. 105-156

Author(s):

Priya S. Kishnani ◽

Yuan-Tsong Chen

Keyword(s):

Carbohydrate Metabolism

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Purine and Pyrimidine Metabolism

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ◽

10.1016/b978-0-12-812535-9.00006-6 ◽

2021 ◽

pp. 183-234

Author(s):

Naoyuki Kamatani ◽

H.A. Jinnah ◽

Raoul C.M. Hennekam ◽

André B.P. van Kuilenburg

Keyword(s):

Pyrimidine Metabolism

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Emery and Rimoin's Principles and Practice of Medical Genetics and GenomicsLatest Publications

TOTAL DOCUMENTS

H-INDEX

Published By Elsevier

Front Matter

Iron Metabolism and Related Disorders

Inherited Porphyrias

Genetics of Mitochondrial Respiratory Chain Disease

Lipoprotein and Lipid Metabolism

Vitamin D Metabolism or Action

Disorders Affecting Glycosylation

Disorders of the Body Mass

Disorders of Carbohydrate Metabolism

Purine and Pyrimidine Metabolism

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Latest Publications