{"title":"Copyright","authors":"","doi":"10.1016/b978-0-12-812537-3.12001-3","DOIUrl":"https://doi.org/10.1016/b978-0-12-812537-3.12001-3","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127946292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Inherited Disorders of Human Copper Metabolism","authors":"S. Kaler, S. Packman","doi":"10.1016/B978-0-12-383834-6.00105-1","DOIUrl":"https://doi.org/10.1016/B978-0-12-383834-6.00105-1","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127731523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital Heart Defects","authors":"R. Moran, N. Robin","doi":"10.1016/B978-0-12-383834-6.00052-5","DOIUrl":"https://doi.org/10.1016/B978-0-12-383834-6.00052-5","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125961109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Guttmacher, D. Marchuk, S. Trerotola, R. Pyeritz
{"title":"Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)","authors":"A. Guttmacher, D. Marchuk, S. Trerotola, R. Pyeritz","doi":"10.1016/B978-0-12-383834-6.00055-0","DOIUrl":"https://doi.org/10.1016/B978-0-12-383834-6.00055-0","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120984553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Index","authors":"","doi":"10.1016/b978-0-12-812535-9.20001-0","DOIUrl":"https://doi.org/10.1016/b978-0-12-812535-9.20001-0","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131306177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lysosomal Storage Disorders","authors":"A. Sun, I. Chang, Christina Lam, G. Berry","doi":"10.1016/B978-0-12-812535-9.00014-5","DOIUrl":"https://doi.org/10.1016/B978-0-12-812535-9.00014-5","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115384413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Weksberg, D. Butcher, C. Cytrynbaum, M. Siu, S. Choufani, B. Tycko
{"title":"Epigenetics","authors":"R. Weksberg, D. Butcher, C. Cytrynbaum, M. Siu, S. Choufani, B. Tycko","doi":"10.1016/b978-0-12-812537-3.00005-6","DOIUrl":"https://doi.org/10.1016/b978-0-12-812537-3.00005-6","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131716747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Genetics of Disorders Affecting the Premature Newborn","authors":"Aaron R Prosnitz, J. Gruen, V. Bhandari","doi":"10.1016/B978-0-12-383834-6.00171-3","DOIUrl":"https://doi.org/10.1016/B978-0-12-383834-6.00171-3","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"419 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124624782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnostic Molecular Genetics","authors":"W. Grody, Joshua L. Deignan","doi":"10.1016/B978-0-12-383834-6.00030-6","DOIUrl":"https://doi.org/10.1016/B978-0-12-383834-6.00030-6","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124672714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genome and Gene Structure","authors":"M. Hegde, M. Crowley","doi":"10.1016/B978-0-12-812537-3.00004-4","DOIUrl":"https://doi.org/10.1016/B978-0-12-812537-3.00004-4","url":null,"abstract":"","PeriodicalId":236394,"journal":{"name":"Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131881779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}