机译:威廉姆斯·贝仑综合征地区的较小和较大缺失涉及涉及轻度面部表型,癫痫和自闭症的基因
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Child NeuroPsychiatry Unit Neuroscience Department IRCCS Children Hospital Bambino Gesú Rome;
Child NeuroPsychiatry Unit Neuroscience Department IRCCS Children Hospital Bambino Gesú Rome;
Medical Genetics IRCCS Children Hospital Bambino Gesú Rome Italy;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
Child NeuroPsychiatry Unit Neuroscience Department IRCCS Children Hospital Bambino Gesú Rome;
Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Poliambulatorio Giovanni Paolo II San;
7q11.23; haploinsufficiency; qPCR; Williams Beuren syndrome;
机译:Williams Beuren综合征区域的越来越大的缺失意味着与面部轻度表型,癫痫和自闭症特征有关的基因
机译:7q11.23部分缺失进一步暗示GTF2I和GTF2IRD1是负责Williams-Beuren综合征神经认知特征的主要基因。
机译:Williams-Beuren综合征间隔的非典型删除意味着与缺陷性视觉空间加工和自闭症相关的基因。
机译:使用小鼠模型和人遗传学确定威廉姆斯综合征关键区域临界区域的遗传贡献
机译:Williams Beuren综合征区域的较大和较小的缺失意味着与轻度面部表型癫痫和自闭症特征有关的基因
机译:Williams-Beuren综合征患者的自闭症:对Williams-Beuren综合征表型的再思考