机译:Cornelia de Lange综合征的HDAC8突变影响粘着素乙酰化周期
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA,The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA;
Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan;
Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan;
Centre National de la Recherche Scientifique (CNRS), Research Institute of Genetics and Development (IGDR), Faculte de Medecine, Rennes 35043, France;
School and Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama 226-8503, Japan;
机译:功能丧失的HDAC8突变会导致Cornelia de Lange综合征样特征,眼部超视,大tel门和X连锁遗传的表型谱
机译:外显子组测序鉴定了与Cornelia de Lange综合征相关的HDAC8中的从头突变(vol 60,pg 164,2015)
机译:Exome测序识别与Cornelia de Lange综合征相关的HDAC8中的DE Novo突变(Vol 60,PG 164,2015)
机译:3d Fottery头骨在Cornelia de Lange综合症
机译:Cornelia de Lange综合征和心脏缺陷的发展起源。
机译:在狄兰氏症候群HDaC8突变影响的黏着乙酰化周期
机译:Cornelia de Lange综合征中的HDAC8突变会影响黏着素乙酰化周期。