Basit öğe kaydını göster

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

dc.contributor.authorYeoh, Allen E. J.
dc.contributor.authorTesi, Bianca
dc.contributor.authorLagerstedt-Robinson, Kristina
dc.contributor.authorChiang, Samuel C. C.
dc.contributor.authorBen Bdira, Eya
dc.contributor.authorAbboud, Miguel
dc.contributor.authorBelen, Burcu
dc.contributor.authorFadoo, Zehra
dc.contributor.authorErichsen, Hans Christian
dc.contributor.authorMottonen, Merja
dc.contributor.authorAkar, Himmet Haluk
dc.contributor.authorHastbacka, Johanna
dc.contributor.authorKaya, Zuhre
dc.contributor.authorNunes, Susana
dc.contributor.authorPATIROĞLU, TÜRKAN
dc.contributor.authorSabel, Magnus
dc.contributor.authorSaribeyoglu, Ebru Tugrul
dc.contributor.authorTvedt, Tor Henrik
dc.contributor.authorÜNAL, EKREM
dc.contributor.authorUnal, Sule
dc.contributor.authorMeeths, Marie
dc.contributor.authorHenter, Jan-Inge
dc.contributor.authorNordenskjold, Magnus
dc.contributor.authorBryceson, Yenan T.
dc.contributor.authorDevecioglu, Omer
dc.contributor.authorUnuvar, Aysegul
dc.date.accessioned2021-03-05T07:24:23Z
dc.date.available2021-03-05T07:24:23Z
dc.identifier.citationTesi B., Lagerstedt-Robinson K., Chiang S. C. C. , Ben Bdira E., Abboud M., Belen B., Devecioglu O., Fadoo Z., Yeoh A. E. J. , Erichsen H. C. , et al., "Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis", GENOME MEDICINE, cilt.7, 2015
dc.identifier.issn1756-994X
dc.identifier.otherav_93a74d81-369f-4a4a-b231-f2ef0a9dc1f5
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/99491
dc.identifier.urihttps://doi.org/10.1186/s13073-015-0244-1
dc.description.abstractBackground: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.titleTargeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
dc.typeMakale
dc.relation.journalGENOME MEDICINE
dc.contributor.departmentKarolinska Institutet (Karolinska Institute) , ,
dc.identifier.volume7
dc.contributor.firstauthorID226979


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster