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المؤلفون: Christine J. Harrison, Stephen P. Hunger, Mignon L. Loh, Anthony V. Moorman, Claire Schwab, Paul Sinclair, Andrew J. Carroll, Nyla A. Heerema
المصدر: Blood. 128:1733-1733
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Chromothripsis, Marker chromosome, Immunology, Cytogenetics, Chromosome, Chromosomal translocation, Karyotype, Cell Biology, Hematology, Biology, Biochemistry, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Multiplex ligation-dependent probe amplification, Chromosome 21
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::224960a72c32563daa09ed27d1b26ec0Test
https://doi.org/10.1182Test/blood .v128.22.1733.1733 -
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المؤلفون: Mauren Fernanda Muller Santos, João Renato Rebello Pinho, Cristóvão Luis Pitangueira Mangueira, Maria Gabriella Cordeiro, Elvira Deolinda Rodrigues Pereira Velloso, Roberta Sitnik, Camila L Clozato
المصدر: ResearcherID
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.diagnostic_test, G banding, Myelodysplastic syndromes, Immunology, Chromosomal translocation, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Molecular biology, law.invention, genomic DNA, law, hemic and lymphatic diseases, medicine, Chromosome abnormality, Multiplex ligation-dependent probe amplification, Polymerase chain reaction, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f088fa33637868f560b663f33618de1dTest
https://doi.org/10.1182Test/blood .v128.22.5525.5525 -
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المؤلفون: Sarra Ryan, Peter J. Campbell, Amir Enshaei, Christine J. Harrison, Jose M. C. Tubio, Jeyanthy Eswaran, Anthony V. Moorman, Lisa J. Russell, Elli Papaemmanuil, Stefano Tonin, Jamie Rutherford, Lisa Jones
المصدر: Blood. 126:1426-1426
مصطلحات موضوعية: Mutation, Point mutation, Immunology, Aneuploidy, Chromosomal translocation, Cell Biology, Hematology, Biology, Gene mutation, medicine.disease, medicine.disease_cause, Biochemistry, Molecular biology, medicine, Multiplex ligation-dependent probe amplification, DDX3X, Interleukin-7 receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::524ffce333808216ad0576149e44d4ceTest
https://doi.org/10.1182Test/blood .v126.23.1426.1426 -
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المؤلفون: Christine J. Harrison, Dino Masic, Lisa Jones, Lisa J. Russell, Amir Enshaei
المصدر: Blood. 126:2624-2624
مصطلحات موضوعية: Genetics, Immunology, Chromosomal translocation, Cell Biology, Hematology, CEBPE, Biology, medicine.disease, Biochemistry, Molecular biology, Exon, CDKN2A, Acute lymphocytic leukemia, CEBPA, CEBPB, medicine, Multiplex ligation-dependent probe amplification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c3f7f406358328ad1423c655cb1c42eTest
https://doi.org/10.1182Test/blood .v126.23.2624.2624 -
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المؤلفون: Fernando Ferreira Costa, Maria de Fátima Sonati, Roberta Dorta Ferreira, Dulcineia M. Albuquerque, Elza Miyuki Kimura, Daniela Maria Ribeiro, Natália de Oliveira Mota, Magnun N. N. Santos
المصدر: Blood. 126:2160-2160
مصطلحات موضوعية: Genetics, Thalassemia, Genetic counseling, Immunology, Breakpoint, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Molecular biology, Chromosome 16, Polymorphism (computer science), medicine, Globin, Multiplex ligation-dependent probe amplification, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::95002d48ecfe62c42b91c87d8733705aTest
https://doi.org/10.1182Test/blood .v126.23.2160.2160 -
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المؤلفون: Mathilde Fretigny, Jenny Goudemand, Bertrand Vaast, Antoine Rauch, Fanny Lassalle, Christine Vinciguerra, Bénédicte Wibaut, Sophie Susen, Valerie Gomanne, Christophe Zawadzki
المصدر: Blood. 126:2273-2273
مصطلحات موضوعية: Genetics, Sanger sequencing, Immunology, Haemophilia A, Cell Biology, Hematology, Ion semiconductor sequencing, Biology, medicine.disease, Biochemistry, Molecular biology, Exon, symbols.namesake, Genotype, medicine, symbols, Missense mutation, Multiplex ligation-dependent probe amplification, Genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d325790c351b463e99c8a2e99a37cc59Test
https://doi.org/10.1182Test/blood .v126.23.2273.2273 -
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المؤلفون: Jana Hof, Jan O. Korbel, Cornelia Eckert, Martina U. Muckenthaler, Judit C. Sági, Rolf Köhler, Tobias Rausch, Renate Kirschner-Schwabe, Obul Reddy Bandapalli, Elena Orlova, Joachim B. Kunz, Andreas E. Kulozik, Martin Schrappe, Paulina Pechanska, Martin Stanulla
المصدر: Blood. 126:1428-1428
مصطلحات موضوعية: Point mutation, Immunology, Cell Biology, Hematology, Biology, MAP3K7, Biochemistry, Molecular biology, Exon, CDKN2A, CDKN2B, Multiplex ligation-dependent probe amplification, Allele frequency, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e03270b83ad1e960d96491a2181e592Test
https://doi.org/10.1182Test/blood .v126.23.1428.1428 -
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المؤلفون: Patrick A. Lundquist, Kenneth C. Swanson, Brian Dawson, Joella A Yungerberg, Ronald S. Go, Molly S. Hein, James D. Hoyer, Lea M. Coon, Dragan Jevremovic, Jennifer L. Oliveira
المصدر: Blood. 126:3374-3374
مصطلحات موضوعية: Genetics, Hereditary persistence of fetal hemoglobin, Anemia, Microcytosis, Microcytic anemia, Immunology, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Molecular biology, HBG2, Hemoglobin A2, Fetal hemoglobin, medicine, Multiplex ligation-dependent probe amplification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e397ea6a191fd0151349056bd2611ebTest
https://doi.org/10.1182Test/blood .v126.23.3374.3374 -
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المؤلفون: Faith E. Davies, Paula Proszek, Eileen M Boyle, Nasrin Dahir, Brian A Walker, Gordon Cook, Roger G. Owen, Suvi Savola, David W. Johnson, Gareth J. Morgan, David A Cairns, Graham Jackson, Dil B Begum, Walter M Gregory, Martin Kaiser, Mark T. Drayson
المصدر: Blood. 124:5168-5168
مصطلحات موضوعية: Immunology, Locus (genetics), Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Molecular biology, Exon, Plasmid, medicine, Multiplex, Multiplex ligation-dependent probe amplification, Gene, Multiple myeloma, V600E
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85c08faa1dae391ae8897fbe47cfdad1Test
https://doi.org/10.1182Test/blood .v124.21.5168.5168 -
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المؤلفون: Christine J. Harrison, Paul Sinclair, Jake Clayton, Sarra Ryan, Joanna Cheng
المصدر: Blood. 124:898-898
مصطلحات موضوعية: Candidate gene, Immunology, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Molecular biology, Leukemia, Cyclin-dependent kinase, biology.protein, medicine, Multiplex ligation-dependent probe amplification, CDKN1B, Gene, Chromosome 12, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8b588afaf4328c1ae0c122abdc70b4f4Test
https://doi.org/10.1182Test/blood .v124.21.898.898