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المؤلفون: Luca Lo Nigro, Nellina Andriano, Valeria Iachelli, Giovanna Russo, Paola Bonaccorso, Manuela La Rosa, Vito Miraglia, Salvatore D'Amico, Andrea Di Cataldo, Emanuela Cannata
المصدر: Blood. 128:5279-5279
مصطلحات موضوعية: Genetics, education.field_of_study, Immunology, Population, Cell Biology, Hematology, Biology, medicine.disease, BRCA2 Protein, Biochemistry, Germline mutation, Acute lymphocytic leukemia, Gene duplication, medicine, Cancer research, Multiplex ligation-dependent probe amplification, education, Childhood Acute Lymphoblastic Leukemia, Nijmegen breakage syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42aa99c6b1d42be6ed6c78983db4b4f3Test
https://doi.org/10.1182Test/blood .v128.22.5279.5279 -
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المؤلفون: Rupa A Udani, Kenneth D. Friedman, Curt Czajkowski, Veronika Mladenova, Kevin Pirelli, Stefanie N Dugan, Valerie Trapp-Stamborski
المصدر: Blood. 128:1361-1361
مصطلحات موضوعية: Genetics, Sanger sequencing, education.field_of_study, Immunology, Population, Cell Biology, Hematology, Biology, Amplicon, Compound heterozygosity, Biochemistry, symbols.namesake, Gene duplication, symbols, Multiplex ligation-dependent probe amplification, Copy-number variation, Allele, education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5412d1bf5b53b0cf72d433270191fc82Test
https://doi.org/10.1182Test/blood .v128.22.1361.1361 -
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المؤلفون: Peter Rushton, Claire Shooter, Xunde Wang, Andriani Kyrri, Barnaby Clark, Xenia Felekis, Marion Phylipsen, Miranda Petrou, Matthew Oakley, Chris Fisher, David Brawand, Frances Smith, Marina Kleanthous, Andrew M. Will, Helen Rooks, Laura Steedman, Douglas R. Higgs, Cornelius Harteveld, Swee Lay Thein, Anthi Drousiotou
المصدر: Blood. 126:3375-3375
مصطلحات موضوعية: Genetics, Sanger sequencing, Sequence analysis, Thalassemia, Immunology, Breakpoint, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, symbols.namesake, Chromosome 16, hemic and lymphatic diseases, Gene duplication, medicine, symbols, Multiplex ligation-dependent probe amplification, Globin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49e6b1cd534a8088415e60b295dde128Test
https://doi.org/10.1182Test/blood .v126.23.3375.3375 -
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المؤلفون: Jordi Esteve, Jose Sarra, Pilar Martínez-Sánchez, Jesús María Hernández-Rivas, Pau Montesinos, Lurdes Zamora, Maria Collado, Lourdes Escoda, Isabel Granada, Marcos González, Evarist Feliu, Pere Barba, Jordi Ribera, Salut Brunet, Ramon Guardia, Joaquín Martínez, Mireia Morgades, José González-Campos, Josep-Maria Ribera, Marta Pratcorona, Eulàlia Genescà, Josep F. Nomdedeu, Francesc Solé, Fuensanta Millá, Mar Tormo, Pablo Trujillo, Inés Gómez-Seguí
المصدر: Blood. 124:3798-3798
مصطلحات موضوعية: medicine.medical_specialty, Hematology, Immunology, Cytogenetics, Cell Biology, Drug resistance, Biology, Bioinformatics, Biochemistry, Gastroenterology, Pathogenesis, ETV6, CDKN2A, Internal medicine, Gene duplication, medicine, Multiplex ligation-dependent probe amplification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c2505589e89f585d269eb4e4cdaf1e44Test
https://doi.org/10.1182Test/blood .v124.21.3798.3798 -
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المؤلفون: Robert R. Montgomery, Sandra L. Haberichter, Ephrem L H Chin, Pamela A. Christopherson, Madhuri Hegde, Daniel B. Bellissimo
المصدر: Blood. 118:380-380
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Sequence analysis, Immunology, Breakpoint, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Exon, Gene duplication, Von Willebrand disease, medicine, Multiplex ligation-dependent probe amplification, Copy-number variation, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26bebe46742cf03f1fc6259d9449cd56Test
https://doi.org/10.1182Test/blood .v118.21.380.380 -
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المؤلفون: Ian R. Peake, Raymon N. C. P. Vijzelaar, Lisa D S Bloomer, Reinhard Schneppenheim, David Lillicrap, Paula D. James, Jeroen Eikenboom, Ahlam M. Al-Buhairan, Robert R. Montgomery, Rachael E. Coyle, Daniel J. Hampshire, Francesco Rodeghiero, Anne Goodeve
المصدر: Blood. 116:2218-2218
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, biology, Immunology, Cell Biology, Hematology, medicine.disease_cause, medicine.disease, Biochemistry, Exon, Von Willebrand factor, hemic and lymphatic diseases, Gene duplication, biology.protein, medicine, Von Willebrand disease, media_common.cataloged_instance, Multiplex ligation-dependent probe amplification, Copy-number variation, European union, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d71e494c97deaf17a9cdfbda210c2431Test
https://doi.org/10.1182Test/blood .v116.21.2218.2218 -
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المؤلفون: Ruth B. Wheeler, J A Cutler, Jayanthi Alamelu
المصدر: Blood. 116:4423-4423
مصطلحات موضوعية: Genetics, Immunology, Nonsense mutation, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Bleeding diathesis, Exon, Gene duplication, medicine, Missense mutation, Multiplex ligation-dependent probe amplification, Copy-number variation, Factor IX, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e9767fa60f44932e19a6f6ff0600dc6Test
https://doi.org/10.1182Test/blood .v116.21.4423.4423 -
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المؤلفون: Claude Negrier, J. Goudemand, Christophe Zawadzki, Christine Vinciguerra, Dorothee Pellecchia
المصدر: Blood. 110:1149-1149
مصطلحات موضوعية: Genetics, Point mutation, Immunology, Intron, Cell Biology, Hematology, Gene mutation, Biology, Biochemistry, Molecular biology, Exon, hemic and lymphatic diseases, Gene duplication, Coding region, Multiplex ligation-dependent probe amplification, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e2a81666a9b040b7d7377d27e02505b3Test
https://doi.org/10.1182Test/blood .v110.11.1149.1149