TY - CHAP M1 - Book, Section TI - Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes A1 - Beaudet, Arthur L. A1 - Scriver, Charles R. A1 - Sly, William S. A1 - Valle, David A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.1 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to discovery of the usual law of Nature by careful investigation of cases of rarer forms of disease. For it has been found, in almost all things, that what they contain of useful or applicable is hardly perceived unless we are deprived of them, or they become deranged in some way. (Taken from Garrod1 quoting a letter written by William Harvey in 1657 to emphasize the value of studying human variants.) SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.1 Y2 - 2024/12/02 UR - ommbid.mhmedical.com/content.aspx?aid=1181400216 ER -