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机译:具有复合杂合GNB5变异的儿童心脏心律失常综合征的智力发育障碍
Department of NeurogeneticsKennedy Krieger InstituteBaltimore Maryland;
Department of NeurogeneticsKennedy Krieger InstituteBaltimore Maryland;
Center for Integrative GenomicsUniversity of LausanneLausanne Switzerland;
Department of NeurogeneticsKennedy Krieger InstituteBaltimore Maryland;
Department of NeurogeneticsKennedy Krieger InstituteBaltimore Maryland;
Division of Human GeneticsChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania;
Division of Medical Genetics IRCCS Casa Sollievo della SofferenzaSan Giovanni Rotondo Foggia Italy;
Center for Integrative GenomicsUniversity of LausanneLausanne Switzerland;
Center for Integrative GenomicsUniversity of LausanneLausanne Switzerland;
Division of Medical Genetics IRCCS Casa Sollievo della SofferenzaSan Giovanni Rotondo Foggia Italy;
cardiac arrhythmia; GNB5; ID; IDDCA; LADCI;
机译:具有复合杂合GNB5变异的儿童心脏心律失常综合征的智力发育障碍
机译:具有心脏心律失常综合征的智力发育障碍严重影响兄弟姐妹的遗传表征与长期管理
机译:GNB5突变会导致一种新型的神经精神疾病,其特征为注意力缺陷多动障碍,严重的语言发育障碍和正常认知
机译:通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
机译:钾通道介导的遗传性心律失常综合征的发病机制和穿透性的遗传决定因素。
机译:涉及BCL2L10GNB5和MYO5C基因的纯合子15q21.2微缺失患者的严重表型类似于婴儿心律失常的发育障碍(IDDCA)
机译:抑制心脏心律失常(IDDCA)识别症状发育障碍心脏功能障碍的G蛋白信号传导