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- [1] Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan[J]. CLINICAL IMMUNOLOGY, 2019, 202 : 29 - 32Wallace, Jacqueline G.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USATipu, Hamid Nawaz论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Inst Pathol, Dept Immunol, Rawalpindi, Pakistan Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USAStafstrom, Kelsey论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USAAlosaimi, Mohammed F.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA King Saud Univ, Dept Pediat, Riyadh, Saudi Arabia Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USAMassaad, Michel J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Amer Univ Beirut, Fac Med, Beirut, Lebanon Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USABainter, Wayne论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USAGeha, Raif S.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USAChou, Janet论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
- [2] Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 320 - 321论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Durmaz, A.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Ege Univ, Fac Med, Dept Med Genet, Izmir, TurkeyPariltay, E.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey论文数: 引用数: h-index:机构:Kutukculer, N.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Pediat Immunol, Izmir, Turkey Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey论文数: 引用数: h-index:机构:
- [3] Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency[J]. FRONTIERS IN IMMUNOLOGY, 2020, 11Strand, Janne论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayGul, Kiran Aftab论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Paediat Res Inst, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayErichsen, Hans Christian论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Univ Oslo, Inst Clin Med, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayLundman, Emma论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBerge, Mona C.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayTromborg, Anette K.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwaySorgjerd, Linda K.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayYtre-Arne, Mari论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayHogner, Silje论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayHalsne, Ruth论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Forens Biol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayGaup, Hege Junita论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayOsnes, Liv T.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Immunol & Transfus Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayKro, Grete A. B.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Microbiol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwaySorte, Hanne S.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayMorkrid, Lars论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRowe, Alexander D.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway论文数: 引用数: h-index:机构:Jorgensen, Jens, V论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayAlme, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat Haematol, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBjorndalen, Trude E. H.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Obstet & Gynaecol, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRonnestad, Arild E.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayLang, Astri M.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayRootwelt, Terje论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Univ Oslo, Inst Clin Med, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayBuechner, Jochen论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat Haematol, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayOverland, Torstein论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway论文数: 引用数: h-index:机构:Pettersen, Rolf D.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, NorwayStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway Oslo Univ Hosp, Dept Paediat, Div Paediat & Adolescent Med, Oslo, Norway Oslo Univ Hosp, Div Paediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway
- [4] Newborn screening for severe combined immunodeficiency (SCID) using combined T cell reception excision circles (TREC)/kappa-deleting element recombination element (KREC) assays and next generation sequencing: diagnostic yield from the new established Swiss programme[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 105 - 106Elgizouli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandPascal, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandBahr, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandPrader, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Dept Immunol, Zurich, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandDrozdof, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Dept Immunol, Zurich, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandSchmid, J. Pachlopnik论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Dept Immunol, Zurich, Switzerland Univ Zurich, Inst Med Genet, Schlieren, SwitzerlandSteindl, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Inst Med Genet, Schlieren, Switzerland论文数: 引用数: h-index:机构:Reichenbach, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Dept Immunol, Zurich, Switzerland Univ Zurich, Inst Med Genet, Schlieren, Switzerland
- [5] Neurologic-Event-Free Survival (NEFS): A New Endpoint for Severe Combined Immunodeficiency (SCID) Patients Diagnosed by Newborn Screening (NBS) and Treated with Hematopoietic Cell Transplantation (HCT)[J]. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION, 2017, 23 (03) : S61 - S61Dvorak, Christopher C.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USAWahlstrom, Justin T.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USAPuck, Jennifer论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USADorsey, Morna论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USAMelton, Alexis论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USAHorn, Biljana论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USACowan, Morton J.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA UCSF Benioff Childrens Hosp, Pediat Allergy Immunol & Blood & Marrow Transplan, San Francisco, CA USA