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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics最新文献

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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-812532-8.01002-8
E. D. Austin, L. Boon, R. Borie, G. Boulday, P. Brouillard, C. Cardinale, J. Collaco, G. Cutting, R. Deo, D. Fatkin, Xiuqing Guo, H. Hakonarson, Carolyn Y. Ho, N. Limaye, Henry J. Lin, J. Loyd, Sahar Mansour, Michael E. March, S. Mathai, D. Marchuk, S. Martin-Almedina, D. Milewicz, N. Molfino, Rocio Moran, S. Morris, K. Musunuru, J. Newman, P. Ostergaard, Ronald M. Paranal, E. Passarge, J. Phillips, R. Pyeritz, A. Qasim, M. Reilly, N. Revencu, N. Robin, B. L. Roman, J. Rotter, J. Roy-Chowdhury, N. Roy‐Chowdhury, D. A. Schwartz, C. Seidman, P. Sleiman, P. Teekakirikul, E. Tournier-Lasserve, S. Trerotola, M. Vikkula, Katie A Walsh, Xia Wang
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引用次数: 0
Vitamin D Metabolism or Action 维生素D的代谢或作用
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/B978-0-12-383834-6.00103-8
E. Streeten, M. Levine
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引用次数: 0
Human Genomic Variants and Inherited Disease 人类基因组变异和遗传疾病
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/B978-0-12-812537-3.00006-8
S. Antonarakis, D. Cooper
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引用次数: 2
Expanded Carrier Screening 扩大携带者筛查
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-815236-2.00008-4
R. Wapner, K. J. Taber, G. Lazarin, Jim Goldberg
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引用次数: 0
Preimplantation Genetic Testing 胚胎植入前基因检测
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-815236-2.00007-2
S. Yatsenko, A. Rajkovic
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引用次数: 0
Mucopolysaccharidoses 黏多醣症
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-812535-9.00013-3
R. Giugliani
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引用次数: 0
Bile Pigment Metabolism and Its Disorders 胆汁色素代谢及其紊乱
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-812532-8.00019-7
N. Roy‐Chowdhury, Xia Wang, J. Roy-Chowdhury
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引用次数: 1
Copyright 版权
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/b978-0-12-812532-8.12001-4
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引用次数: 0
Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension 遗传性和特发性肺动脉高压
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/B978-0-12-383834-6.00054-9
E. Austin, J. Newman, J. Loyd, J. Phillips
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引用次数: 1
Organic Acidemias and Disorders of Fatty Acid Oxidation 有机酸血症和脂肪酸氧化紊乱
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Pub Date : 1900-01-01 DOI: 10.1016/B978-0-12-383834-6.00102-6
J. Vockley
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引用次数: 0
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