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Kim Ramme
Kim Ramme
Pediatric hematology and oncology, Akademiska Children Hospital
在 rammes.se 的电子邮件经过验证
标题
引用次数
引用次数
年份
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
KG Ericson, B Fadeel, S Nilsson-Ardnor, C Söderhäll, AC Samuelsson, ...
The American Journal of Human Genetics 68 (3), 590-597, 2001
3332001
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
MT Lam, S Coppola, OHF Krumbach, G Prencipe, A Insalaco, C Cifaldi, ...
Journal of Experimental Medicine 216 (12), 2778-2799, 2019
1882019
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
M Meeths, YT Bryceson, E Rudd, C Zheng, SM Wood, K Ramme, K Beutel, ...
Pediatric blood & cancer 54 (4), 563-572, 2010
1182010
Characterization of PRF1, STX11 and UNC13D genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis
AC Horne, KG Ramme, E Rudd, C Zheng, Y Wali, Z Al‐Lamki, A Gürgey, ...
British journal of haematology 143 (1), 75-83, 2008
1142008
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
E Rudd, YT Bryceson, C Zheng, J Edner, SM Wood, K Ramme, S Gavhed, ...
Journal of medical genetics 45 (3), 134-141, 2008
742008
Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia
G Carlsson, M Melin, N Dahl, KG Ramme, M Nordenskjöld, J Palmblad, ...
Acta Paediatrica 96 (6), 813-819, 2007
602007
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the …
G Carlsson, AA Aprikyan, KG Ericson, S Stein, V Makaryan, DC Dale, ...
haematologica 91 (5), 589-595, 2006
542006
Low plasma levels of the protein pro‐LL‐37 as an early indication of severe disease in patients with chronic neutropenia
J Karlsson, G Carlsson, KG Ramme, H Hägglund, B Fadeel, ...
British journal of haematology 137 (2), 166-169, 2007
402007
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
K Ericson, B Fadeel, M Andersson, GH Gudmundsson, A Gürgey, ...
Human genetics 112, 98-99, 2003
332003
Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment
Z Al-Lamki, YA Wali, A Pathare, KG Ericson, JI Henter
Pediatric hematology and oncology 20 (8), 603-609, 2003
252003
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C
M Sundin, M Uhlin, A Gaballa, K Ramme, AGA Kolios, P Marits, J Nilsson
Pediatric Allergy and Immunology 29 (1), 108-111, 2018
92018
Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C
M Sundin, P Marits, K Ramme, AGA Kolios, J Nilsson
Clinical Immunology 200, 16-18, 2019
62019
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis
D Ma, E Rudd, J Edner, S Gavhed, KG Ramme, B Fadeel, M Nordenskjöld, ...
Pediatric Blood & Cancer 50 (5), 1067-1069, 2008
62008
Strong expression of p53 protein in bone marrow samples after hematopoietic stem cell transplantation indicates risk of relapse in pediatric acute lymphoblastic leukemia patients
K Mattsson, E Honkaniemi, K Ramme, G Barbany, BM Sander, ...
Pediatric Transplantation 23 (4), e13408, 2019
52019
Origins of STIL‐TAL1 fusion genes in children who later developed paediatric T‐cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots
BM Gustafsson, K Mattsson, G Bogdanovic, G Leijonhufvud, ...
Pediatric Blood & Cancer 65 (11), e27310, 2018
52018
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels
C Äng, RH Zetterström, K Ramme, E Axelsen, P Marits, M Sundin
Frontiers in Immunology 14, 1257581, 2023
12023
Crowdsourcing Long COVID Sweden (CiLC-S): Exploring Digital Methods and Voluntary Health Data for Research and Response in Social Crises
V Johansson, L Wänström, K Ramme, S Kallio, J Nilsdotter Swartswe, ...
Information Science Trends–The ASIS&T European Chapter Research Series, June …, 2021
12021
Genetics and pathogenesis of hemophagocytic lymphohistiocytosis
K Ericson, B Fadeel, JI Henter
Histiocytic Disorders of Children and Adults: Basic Science, Clinical …, 2005
12005
Survey questionnaire: Health impacts and information needs in" long-COVID":(Version 2)
V Johansson, L Wänström, K Ramme, J Nilsdotter Swartswe, S Kallio
2022
A novel disorder involving dyshematopoiesis, inflammation and HLH due to aberrant CDC42 function
S Coppola, MT Lam, OH Krumbach, G Prencipe, I Insalaco, C Cifaldi, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 112-113, 2020
2020
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