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المؤلفون: Marcin Lyszkiewicz, Masao Kobayashi, Barbara Walzog, Micha Drukker, Yanshan Liu, Yoko Mizoguchi, Natalia Ziętara, Nima Rezaei, Zahra Pourpak, Juri Rappsilber, Tim Jeske, Sorin Iurian, Christoph Klein, Sebastian Hesse, Ejona Rusha, Fabian Hauck, Megumi Tatematsu, Ekrem Unal, Zahra Alizadeh, Megumu K. Saito, Piotr Grabowski, Monika I. Linder, Kaarin Ahomaa, Sebastian Hollizeck
المصدر: Blood. 134:216-216
مصطلحات موضوعية: Signal recognition particle, Chemistry, Endoplasmic reticulum, Immunology, Granule (cell biology), RNA, Cell Biology, Hematology, Biochemistry, Ribosome, Cell biology, Proteome, PTX3 protein, Biogenesis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c50ec9303624bbd0d5aadaf87de49100
https://doi.org/10.1182/blood-2019-130083 -
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المؤلفون: Zahra Pourpak, Yoko Mizoguchi, Fabian Hauck, Sorin Iurian, Rappsilber Juri, Ralf Zimmer, Piotr Grabowski, Christoph Klein, Nima Rezaei, Sebastian Hesse, Zahra Alizadeh, Ekrem Unal, Monika I. Linder, Gergely Csaba
المصدر: Blood. 134:3580-3580
مصطلحات موضوعية: Multicatalytic endopeptidase complex, Immunology, Mimicry, Cell Biology, Hematology, Computational biology, Biology, Biochemistry, Protein overexpression
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c7c304485b1f978223b9d4122f37ee4f
https://doi.org/10.1182/blood-2019-131136 -
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المؤلفون: Capucine Picard, László Maródi, Sorin Iurian
المصدر: Romanian Journal of Laboratory Medicine, Vol 23, Iss 3, Pp 341-345 (2015)
مصطلحات موضوعية: Hyper IgM syndrome, Recurrent infections, Bone disease, hyper-igm syndrome, infecții recurente, business.industry, severe infections, medicine.disease, recurrent infections, Immunology, Medicine, bone disease, sindrom hiper-igm, business, infecții severe, osteopatie
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a2957c6a2f1143dfdfc23b0c02346a
https://doaj.org/article/8e48be0a8676468284e3e683d676174b -
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المؤلفون: Juliette, Piard, James, Lespinasse, Marketa, Vlckova, Martin A, Mensah, Sorin, Iurian, Martina, Simandlova, Marcela, Malikova, Oliver, Bartsch, Massimiliano, Rossi, Marion, Lenoir, Frédérique, Nugues, Stefan, Mundlos, Uwe, Kornak, Philip, Stanier, Sérgio B, Sousa, Lionel, Van Maldergem
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, PTDSS1, Clinical Report, hyperostotic skeletal dysplasia, Genotype, Nitrogenous Group Transferases, Facies, cutis laxa, Exons, Hyperostosis, Clinical Reports, Lenz–Majewski syndrome, Radiography, Phenotype, Child, Preschool, Mutation, Humans, Female, Child, Alleles, Genetic Association Studies