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1
المؤلفون: Jae Sung Ko, Seong Dong Jeong, Young Bae Sohn, Che Ry Hong, Taekyeong Yoo, Hyeon Ho Kim, Murim Choi, Tae Joon Cho, Nathan T. Wright, Soo Jin Son, Ah-Ra Kim, Boryeong Park, Suk-Won Jin, Ok Hwa Kim, Jun-Dae Kim, Hyoung Jin Kang, Sangmoon Lee, Jung Min Ko, Jawon Lee, Oleksandr Kokhan, Je Kyung Seong, Chang Hoon Shin
المصدر: Blood. 138(21)
مصطلحات موضوعية: Adult, Male, Models, Molecular, Ribosomopathy, Somatic cell, Immunology, Biology, Biochemistry, Ribosome assembly, Chromosome 15, medicine, Animals, Humans, Point Mutation, Allele, Child, Allele frequency, Alleles, Ribonucleoprotein, U5 Small Nuclear, Genetics, Cell Biology, Hematology, SBDS, Uniparental Disomy, medicine.disease, Peptide Elongation Factors, Uniparental disomy, Shwachman-Diamond Syndrome, Mice, Inbred C57BL, Child, Preschool, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7609db3794ad37d608ded003966eb1a7Test
https://pubmed.ncbi.nlm.nih.gov/34821936Test -
2
المؤلفون: Eric Jeziorski, Yves Bertrand, Flore Sicre de Fontbrune, Virginie Gandemer, Blandine Beaupain, Frédéric Millot, Jean Donadieu, François Delhommeau, Jean-Alain Martignoles, Marie-Laure Couec, Claude Preudhomme, Laetitia Largeaud, Cecile Renard, Nathalie Aladjidi, Pierre-Simon Rohrlich, Wadih Abou Chahla, Claire Fieschi, Sophie Kaltenbach, Stéphane Blanche, Despina Moushous, Pierre Hirsch, Isabelle Meyts, Guy Leverger, Thomas Longval, Jean Louis Stephan, Vincent Barlogis, Aline Moignet Autrel, Fanny Fouyssac, Dalila Adjaoud, Marlène Pasquet, Olivier Tournilhac, Vahid Asnafi, Patrick Revy, Pascale Flandrin-Gresta, Christine Bellanné-Chantelot, Liana Carausu, Nawa Hachem, Thierry Leblanc, Hélène Lapillonne, Jean Soulier, Mira El-Khoury
المصدر: Blood. 136:22-23
مصطلحات موضوعية: Shwachman–Diamond syndrome, medicine.medical_specialty, Acute leukemia, business.industry, Immunology, Cell Biology, Hematology, SBDS, medicine.disease, Biochemistry, Transplantation, Germline mutation, Internal medicine, Cohort, medicine, Aplastic anemia, Prospective cohort study, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::838bfcc7a297279509aa303333df11b4Test
https://doi.org/10.1182Test/blood -2020-138540 -
3
المؤلفون: Taizo A. Nakano, Adrianna Vlachos, Maggie Malsch, Alyssa L. Kennedy, Shanshan Liu, David C. Dale, James A. Connelly, Nicholas D. Camarda, James Bowman, Nobuko Hijiya, Akiko Shimamura, R. Coleman Lindsley, Edie Weller, Scott L. Carter, Jeffrey H. Lipton, Kelly Walkovich, Inga Hofmann, Chad E. Harris, Robert Klein, Sioban Keel, Steffen Boettcher, John M. Gansner, Christian Brendel, James N. Huang, Kasiani C. Myers, Wendy Stock, Chris Bahl, Adam J. Lamble, Elissa M. Furutani, Maxim Norkin, Alison A. Bertuch, Ashley Galvin, Bonnie W. Lau, Christopher J. Gibson, Gwen M. Muscato, Richard H. Ho, Mark D. Fleming, Kaitlyn Ballotti, John R. Edwards, Stella M. Davies, Elliot Stieglitz, Paul Castillo
المصدر: Blood. 136:35-36
مصطلحات موضوعية: Mutation, Immunology, Wild type, Cell Biology, Hematology, SBDS, Biology, medicine.disease_cause, Biochemistry, Molecular biology, Germline, Ribosome assembly, Germline mutation, medicine, Missense mutation, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1377179ab489ea83b3206b582f8fd38cTest
https://doi.org/10.1182Test/blood -2020-137125 -
4
المؤلفون: Hongbo Michael Xie, Brian Ennis, Timothy S. Olson, Lori Kunselman, Jian-Meng Fan, Ji Zha
المصدر: Blood. 134:3199-3199
مصطلحات موضوعية: Stromal cell, medicine.medical_treatment, Immunology, Hematopoietic stem cell, Cell Biology, Hematology, Hematopoietic stem cell transplantation, SBDS, Biology, Biochemistry, Granulocyte colony-stimulating factor, Transplantation, medicine.anatomical_structure, Cancer research, medicine, biology.protein, Stromal cell-derived factor 1, Bone marrow
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::900d669f1795f15b0da9bc3f4d27e0d7Test
https://doi.org/10.1182Test/blood -2019-121763 -
5
المؤلفون: Alison A. Bertuch, Elif Asik, Nimrat Chatterjee
المصدر: Blood. 134:104-104
مصطلحات موضوعية: Genome instability, DNA repair, Ribosomopathy, DNA damage, Immunology, RAD51, Cell Biology, Hematology, SBDS, Biology, medicine.disease, Biochemistry, Fanconi anemia, medicine, Cancer research, Diamond–Blackfan anemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::56503242f1f443f0235e2e549f6397a4Test
https://doi.org/10.1182Test/blood -2019-128953 -
6
المصدر: Blood. 134:3737-3737
مصطلحات موضوعية: Phenocopy, Shwachman–Diamond syndrome, Mutation, Transgene, Immunology, Cell Biology, Hematology, Biology, SBDS, medicine.disease, biology.organism_classification, medicine.disease_cause, Biochemistry, Molecular biology, medicine, Missense mutation, Allele, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::deb7dd1a86cf8987bdd4b46129b24ac3Test
https://doi.org/10.1182Test/blood -2019-129014 -
7
المؤلفون: Blanche P. Alter, Lisa J. McReynolds, Kedest Teshome, Kristine Jones, Sharon A. Savage, Neelam Giri, Alyssa L. Kennedy, Akiko Shimamura
المصدر: Blood. 132:2586-2586
مصطلحات موضوعية: Genetics, Proband, Sanger sequencing, Shwachman–Diamond syndrome, Immunology, Cell Biology, Hematology, Biology, SBDS, medicine.disease, Metaphyseal dysplasia, Biochemistry, Frameshift mutation, Exon, symbols.namesake, medicine, symbols, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::33f5217c0ee50f5ccda27c5d012b6206Test
https://doi.org/10.1182Test/blood -2018-99-118495 -
8
المؤلفون: Lucy A. Godley
المصدر: Blood. 129:1413-1414
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Immunology, Block (permutation group theory), Cell Biology, Hematology, SBDS, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 030104 developmental biology, medicine, Missense mutation, In patient, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ff770e43032b73b10c5119c62483296eTest
https://doi.org/10.1182Test/blood -2017-01-761635 -
9
المؤلفون: Alan J. Warren, Chi C. Wong, David Traynor, Nicolas Basse, Robert R. Kay
المصدر: Blood. 118:4305-4312
مصطلحات موضوعية: Ribosomopathy, Immunology, Protozoan Proteins, Ribosome biogenesis, Biology, Biochemistry, Ribosome, Cell Line, GTP Phosphohydrolases, Ribosome assembly, Peptide Initiation Factors, Eukaryotic initiation factor, Humans, Lipomatosis, Dictyostelium, Bone Marrow Diseases, Eukaryotic Large Ribosomal Subunit, Proteins, Cell Biology, Hematology, SBDS, Molecular biology, Shwachman-Diamond Syndrome, EIF6, Mutation, Exocrine Pancreatic Insufficiency, Ribosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fded29cca948de2b03025c4a313a930Test
https://doi.org/10.1182Test/blood -2011-06-353938 -
10
المؤلفون: Karl Cuddy, Michael Glogauer, Yongqiang Wang, Roland Leung, Johanna M. Rommens
المصدر: Blood. 117:2044-2053
مصطلحات موضوعية: Macrophage colony-stimulating factor, RHOA, Immunology, Gene Expression, Osteoclasts, Nerve Tissue Proteins, RAC1, CDC42, In Vitro Techniques, Biochemistry, Monocytes, Mice, Cell Movement, Osteoclast, medicine, Animals, Humans, Lipomatosis, Bone Resorption, Receptor, Bone Marrow Diseases, DNA Primers, Mice, Knockout, Base Sequence, Receptor Activator of Nuclear Factor-kappa B, biology, Monocyte, Membrane Proteins, Proteins, Cell Biology, Hematology, SBDS, Shwachman-Diamond Syndrome, rac GTP-Binding Proteins, medicine.anatomical_structure, Mutation, biology.protein, Cancer research, Exocrine Pancreatic Insufficiency, Female, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4ae8a686ee501adbfe514de575c12cTest
https://doi.org/10.1182Test/blood -2010-05-282574