المؤلفون: R. El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima El Omri, Yosra Ben Youssef, Mohamed Adnène Laatiri, Laëtitia Huiart, François Eisinger, Laetitia Rabayrol, Marc Frénay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, S. Jemni, T Noguchi, Hagay Sobol, Zohra Soua

مصطلحات موضوعية: Hemophagocytic Lymphohistiocytosis and Related Disorders, Hematology, Medicine, Health Sciences, Epidemiology and Treatment of Childhood Leukemia, Public Health, Environmental and Occupational Health, Supporting Health Care Transition from Adolescence to Adulthood, Speech and Hearing, Health Professions, Perforin Gene Mutations, Familial Hemophagocytic Lymphohistiocytosis, Perforin, Missense mutation, Hemophagocytic lymphohistiocytosis, Genetics, FOS Biological sciences, Gene, Germline mutation, Allele, Mutation, Germline, Mutant, Biology, Immunology, FOS Clinical medicine, Cancer research, Disease, Internal medicine, Cytotoxic T cell, In vitro

العلاقة: https://dx.doi.org/10.60692/81jt8-hys58Test

الإتاحة: https://doi.org/10.60692/jz0yr-42r8610.60692/81jt8-hys58Test

المؤلفون: Jane C. Stinchcombe, Alessandra Santoro, Lorenzo Moretta, Concetta Micalizzi, Giuseppa Bruno, Francesco Dieli, Cesare Danesino, Daniela Pende, Lucia Dora Notarangelo, Federico Gallo, Sonia Cannella, Antonino Trizzino, Gillian M. Griffiths, Maurizio Aricò, C De Fusco, Giovanna Bossi

المساهمون: SANTORO A, CANNELLA S, TRIZZINO A, GALLO F, PENDE D, DIELI F, BRUNO G, MICALIZZI C, DE FUSCO C, DANESINO C, MORETTA L, NOTARANGELO LD, GRIFFITHS G, ARIC M

المصدر: Journal of Medical Genetics. 43:953-960

مصطلحات موضوعية: EXPRESSION, Male, PRF1, Adolescent, FHL, Blotting, Western, DNA Mutational Analysis, Hepatosplenomegaly, DONORS, Prenatal diagnosis, Biology, medicine.disease_cause, Lymphohistiocytosis, Hemophagocytic, Genetics, medicine, PERFORIN GENE-MUTATIONS, Humans, UNC13D, Child, Genetics (clinical), Family Health, SPECTRUM, Hemophagocytic lymphohistiocytosis, Mutation, Cytopenia, Microscopy, Confocal, IDENTIFICATION, Genetic heterogeneity, Infant, Newborn, CYTOTOXIC T-LYMPHOCYTES, Infant, Membrane Proteins, medicine.disease, BONE-MARROW-TRANSPLANTATION, Transplantation, Microscopy, Electron, Child, Preschool, Immunology, Female, medicine.symptom, Letter to JMG, T-Lymphocytes, Cytotoxic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be968a79ccc972b5268d678b3a5fef1aTest
https://doi.org/10.1136/jmg.2006.041863Test

المؤلفون: Uttenthal, Benjamin J., Layton, D. Mark, Vyse, Timothy J., Schreiber, Benjamin E.

المصدر: Uttenthal , B J , Layton , D M , Vyse , T J & Schreiber , B E 2012 , ' The Wolf at the Door ' , New England Journal of Medicine , vol. 366 , no. 23 , pp. 2216-2221 . https://doi.org/10.1056/NEJMcps1010093Test

مصطلحات موضوعية: REACTIVE HEMOPHAGOCYTIC SYNDROME, PERFORIN GENE-MUTATIONS, CLINICAL-FEATURES, LYMPHOHISTIOCYTOSIS, DISEASE, MACROPHAGE ACTIVATION SYNDROME

الإتاحة: https://doi.org/10.1056/NEJMcps1010093Test
https://kclpure.kcl.ac.uk/portal/en/publications/a3dbf449-07b4-42e3-928f-4b839f349491Test

المؤلفون: Bryceson, Yenan T., Rudd, Eva, Zheng, Chengyun Y., Edner, Josefine, Ma, Daoxin, Wood, Stephanie M., Bechensteen, Anne Grete, Boelens, Jaap J., Celkan, Tiraje, Farah, Roula A., Hultenby, Kjell, Winiarski, Jacek, Roche, Paul A., Nordenskjold, Magnus, Henter, Jan-Inge, Long, Eric O., Ljunggren, Hans-Gustav

مصطلحات موضوعية: Hematology, Familial Hemophagocytic Lymphohistiocytosis, Natural-killer-cells, Perforin Gene-mutations, Mediated Cytotoxicity, Nk Cells, Inhibitory Receptors, Granule Exocytosis, Dendritic Cells, Immune-system, Class-i, 1303 Biochemistry, 1307 Cell Biology, 2403 Immunology, 2720 Hematology

الإتاحة: https://doi.org/10.1182/blood-2007-02-074468Test
https://espace.library.uq.edu.au/view/UQ:130121Test

المؤلفون: SANTORO A, CANNELLA, Salvatore, TRIZZINO A, GALLO F, PENDE D, DIELI, Francesco, BRUNO G, MICALIZZI, Caterina, DE FUSCO C, DANESINO C, MORETTA L, NOTARANGELO LD, GRIFFITHS G, ARIC M.

المساهمون: SANTORO A, CANNELLA S, TRIZZINO A, GALLO F, PENDE D, DIELI F, BRUNO G, MICALIZZI C, DE FUSCO C, DANESINO C, MORETTA L, NOTARANGELO LD, GRIFFITHS G, ARIC M

مصطلحات موضوعية: BONE-MARROW-TRANSPLANTATION, CYTOTOXIC T-LYMPHOCYTES, PERFORIN GENE-MUTATIONS, PRF1, IDENTIFICATION, EXPRESSION, SPECTRUM, DONORS, FHL

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16825436; info:eu-repo/semantics/altIdentifier/wos/WOS:000242483900010; volume:43; issue:12; firstpage:953; lastpage:960; numberofpages:8; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/10447/21721Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33749333212

الإتاحة: https://doi.org/10.1136/jmg.2006.041863Test
http://hdl.handle.net/10447/21721Test