Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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作者
Bianca Tesi
Kristina Lagerstedt-Robinson
Samuel C. C. Chiang
Eya Ben Bdira
Miguel Abboud
Burcu Belen
Omer Devecioglu
Zehra Fadoo
Allen E. J. Yeoh
Hans Christian Erichsen
Merja Möttönen
Himmet Haluk Akar
Johanna Hästbacka
Zuhre Kaya
Susana Nunes
Turkan Patiroglu
Magnus Sabel
Ebru Tugrul Saribeyoglu
Tor Henrik Tvedt
Ekrem Unal
Sule Unal
Aysegul Unuvar
Marie Meeths
Jan-Inge Henter
Magnus Nordenskjöld
Yenan T. Bryceson
机构
[1] Karolinska University Hospital Solna,Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institutet
[2] Karolinska University Hospital,Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet
[3] Karolinska University Hospital,Clinical Genetics
[4] Karolinska University Hospital Huddinge,Centre for Infectious Medicine, Department of Medicine, Karolinska Institutet
[5] American University of Beirut,Department of Pediatrics and Adolescent Medicine
[6] Tepecik Training and Research Hospital,Department of Pediatric Hematology, Izmir Katip Celebi University Medical Faculty
[7] Istanbul Medical School,Department of Pediatric Hematology Oncology
[8] Aga Khan University,Department of Oncology and Pediatrics
[9] National University of Singapore,Viva
[10] Oslo University Hospital,University Children’s Cancer Centre, Department of Paediatric, Yong Loo Lin School of Medicine
[11] Oulu University Hospital,Department of Pediatrics
[12] Erciyes University Medical Faculty,Department of Pediatrics and Adolescence, PEDEGO Research Unit
[13] Helsinki University Central Hospital,Department of Pediatric Immunology
[14] Medical School of Gazi University,Department of Perioperative and Intensive Care, Children’s Hospital
[15] São João Hospital Center,Pediatric Hematology Unit of the Department of Pediatrics
[16] University of Gothenburg,Hematology
[17] Queen Silvia Children’s Hospital,Oncology Unit, Department of Pediatrics
[18] Medipol University,Institute of Clinical Sciences, Department of Pediatrics, Sahlgrenska Academy
[19] Haukeland University Hospital,Department of Pediatric Hematology and Oncology and Bone Marrow Transplantation Unit, Medipol School of Medicine
[20] Erciyes University,Department of Medicine
[21] Department of Pediatrics,Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine
[22] Division of Pediatric Hematology,Division of Pediatric Hematology and Oncology, Istanbul School of Medicine
[23] Istanbul University,Broegelmann Research Laboratory, The Gades Institute
[24] University of Bergen,undefined
来源
Genome Medicine | / 7卷
关键词
Natural Killer Cell; Hemophagocytic Lymphohistiocytosis; Biallelic Mutation; Integrative Genomic Viewer; Undiagnosed Patient;
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