De Novo and Biallelic DEAF1 Variants Cause a Phenotypic SpectrumMaria J. Nabais Sá,Philip J. Jensik,Stacey R. McGee,Michael J. Parker,Nayana Lahiri,Evan P. McNeil,Hester Y. Kroes,Randi J. Hagerman,Rachel E. Harrison,Tara Montgomery,Miranda Splitt,Elizabeth E. Palmer,Rani K. Sachdev,Heather C. Mefford,Abbey A. Scott,Julian A. Martinez-Agosto,Rüdiger Lorenz,Naama Orenstein,Jonathan N. Berg,Jeanne Amiel,Delphine Heron,Boris Keren,Jan-Maarten Cobben,Leonie A. Menke,Elysa J. Marco,John M. Graham Jr,Tyler Mark Pierson,Ehsan Ghayoor Karimiani,Reza Maroofian,M. Chiara Manzini,Edmund S. Cauley,Roberto Colombo,Sylvie Odent,Christele Dubourg,Chanika Phornphutkul,Arjan P. M. de Brouwer,Bert B. A. de Vries, Anneke T. Vulto-vanSilfhoutGenetics in Medicine(2019)引用 17|浏览16暂无评分关键词DEAF1,neurodevelopmental disorder,intellectual disability,genotype,phenotypeAI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要