Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A Jenkins, Ella M Williams, Benjamin J Halliday, Sylvia A Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F Brady, Elena Galazzi, Julien van Gils, Anna C E Hurst, Frank J Kaiser, Didier Lacombe, Antonio F Martinez-Monseny, Patricia Fergelot, Fabíola P Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N Simpson, Mariëlle Alders, Stephen P Robertson, Bekim Sadikovic, Leonie A Menke
{"title":"门克-亨内卡姆综合征;具有不同临床和 DNA 甲基化特征的领域特异性亚型的划分。","authors":"Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A Jenkins, Ella M Williams, Benjamin J Halliday, Sylvia A Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F Brady, Elena Galazzi, Julien van Gils, Anna C E Hurst, Frank J Kaiser, Didier Lacombe, Antonio F Martinez-Monseny, Patricia Fergelot, Fabíola P Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N Simpson, Mariëlle Alders, Stephen P Robertson, Bekim Sadikovic, Leonie A Menke","doi":"10.1016/j.xhgg.2024.100337","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":34530,"journal":{"name":"HGG Advances","volume":null,"pages":null},"PeriodicalIF":3.3000,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440774/pdf/","citationCount":"0","resultStr":"{\"title\":\"Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.\",\"authors\":\"Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A Jenkins, Ella M Williams, Benjamin J Halliday, Sylvia A Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F Brady, Elena Galazzi, Julien van Gils, Anna C E Hurst, Frank J Kaiser, Didier Lacombe, Antonio F Martinez-Monseny, Patricia Fergelot, Fabíola P Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N Simpson, Mariëlle Alders, Stephen P Robertson, Bekim Sadikovic, Leonie A Menke\",\"doi\":\"10.1016/j.xhgg.2024.100337\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":34530,\"journal\":{\"name\":\"HGG Advances\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-10-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440774/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"HGG Advances\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.xhgg.2024.100337\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"HGG Advances","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xhgg.2024.100337","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/21 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}