Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes
对复杂智力障碍家庭的表型和基因型特征进行分析,确定了已知和新发病基因中的致病遗传变异
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-020-57929-4
Hossein Darvish, Luis J Azcona, Abbas Tafakhori, Roxana Mesias, Azadeh Ahmadifard, Elena Sanchez, Arman Habibi, Elham Alehabib, Amir Hossein Johari, Babak Emamalizadeh, Faezeh Jamali, Marjan Chapi, Javad Jamshidi, Yuji Kajiwara, Coro Paisán-Ruiz