机译:发行/ EMQN最佳实践指南,用于下一代测序时代的单体自身炎性疾病的遗传诊断
Sheba Med Ctr Heller Inst Lab FMF Amyloidosis &
Rare Autoinflammatory Dis Tel Hashomer Israel;
IRCCS UOC Med Genet Ist Giannina Gaslini Genoa Italy;
UCL Med Sch Natl Amyloidosis Ctr London England;
NHGRI Bethesda MD 20892 USA;
Hosp Clin Barcelona Dept Immunol Barcelona Spain;
Hadassah Hebrew Univ Rheumatol Unit Med Ctr Jerusalem Israel;
Univ Montpellier Reference Ctr CEREMAIA Dept Med Genet Rare Dis &
Personalized Med CHU;
IRCCS Giannina Gaslini Ctr Autoinflammatory Dis &
Immunodeficiency Genoa Italy;
Ctr Med Genet &
Primary Hlth Care Yerevan Armenia;
Kurume Univ Dept Med Div Respirol Neurol &
Rheumatol Sch Med Kurume Fukuoka Japan;
Wakayama Med Univ Dept Dermatol Wakayama Japan;
UCL Med Sch Natl Amyloidosis Ctr London England;
Hosp Clin Barcelona Dept Immunol Barcelona Spain;
Kurume Univ Dept Pediat &
Child Hlth Sch Med Kurume Fukuoka Japan;
ViennaLab Diagnost Vienna Austria;
Fdn IRCCS Policlin San Matteo Amyloidosis Res &
Treatment Ctr Pavia Italy;
Kazusa DNA Res Inst Dept Appl Genom Kisarazu Japan;
Hacettepe Univ Dept Pediat Ankara Turkey;
Ctr Med Genet &
Primary Hlth Care Yerevan Armenia;
St Marys Hosp Manchester Ctr Genom Med European Mol Genet Qual Network EMQN Manchester Lancs;
St Marys Hosp Manchester Ctr Genom Med European Mol Genet Qual Network EMQN Manchester Lancs;
Univ Groningen Univ Med Ctr Groningen Dept Genet Groningen Netherlands;
Univ Groningen Univ Med Ctr Groningen Dept Genet Groningen Netherlands;
Univ Montpellier Reference Ctr CEREMAIA Dept Med Genet Rare Dis &
Personalized Med CHU;
机译:发行/ EMQN最佳实践指南,用于下一代测序时代的单体自身炎性疾病的遗传诊断
机译:基于靶向下一代测序的基于过程的内生成疾病的遗传诊断评价
机译:使用下一代测序平台MiSeq对自身炎症进行准确的临床基因测试
机译:通过采矿电子医疗记录和遗传储存库发现多疾病的单一原因
机译:利用下一代测序数据开发用于研究非模型生物遗传学和人类疾病的计算方法。
机译:专家参考中心验证对自发性疾病遗传诊断的下一代测序性能的积极影响
机译:使用新一代测序平台miseq对自身炎症性疾病进行准确的临床基因检测