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1دورية أكاديمية
المؤلفون: Nicolas Waespe, Santhosh Dhanraj, Manju Wahala, Elena Tsangaris, Tom Enbar, Bozana Zlateska, Hongbing Li, Robert J. Klaassen, Conrad V. Fernandez, Geoff D. E. Cuvelier, John K. Wu, Yves D. Pastore, Mariana Silva, Jeffrey H. Lipton, Joseé Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark J. Belletrutti, Vicky R. Breakey, Lawrence Jardine, Lisa Goodyear, Liat Kofler, Michaela Cada, Lillian Sung, Mary Shago, Stephen W. Scherer, Yigal Dror
المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المؤلفون: Michaela Cada, Catherin I. Segbefia, Robert Klaassen, Conrad V. Fernandez, Rochelle A. Yanofsky, John Wu, Yves Pastore, Mariana Silva, Jeffrey H. Lipton, Josee Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Mary Shago, Joseph Beyene, Preeti Sharma, Bozana Zlateska, Yigal Dror
المصدر: Haematologica, Vol 100, Iss 5 (2015)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Reena Pabari, Elisa Cohen, Geoff D.E. Cuvelier, Robert J. Klaassen, Stephanie Villeneuve, Josee Brossard, Sharon Abish, MacGregor Steele, Yves D. Pastore, Jeffrey H. Lipton, Meera Rayar, Vicky R. Breakey, Laura Wheaton, Lawrence Jardine, Roona Sinha, Lisa Goodyear, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Yigal Dror, Michaela Cada
المصدر: Blood. 140:11461-11462
مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36fb1f0954fe0a9e7bcf0567ec2c882f
https://doi.org/10.1182/blood-2022-169965 -
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المؤلفون: Bozana Zlateska, Lisa Goodyear, Yigal Dror, Vicky R. Breakey, Jeffrey H. Lipton, MacGregor Steele, Lillian Sung, Bruno Michon, Roona Sinha, Yves D. Pastore, Albert Català, Salah Ali, Geoffrey D.E. Cuvelier, Michaela Cada, Supanun Lauhasurayotin, Meera Rayar, Sharon Abish, Josee Brossard, Conrad V. Fernandez, Robert J. Klaassen, Catherine Corriveau-Bourque, Mariana Silva, Lawrence Jardine
المصدر: Paediatrics Publications
مصطلحات موضوعية: Adult, Male, Oncology, Canada, medicine.medical_specialty, Adolescent, Pancytopenia, medicine.medical_treatment, Hematopoietic stem cell transplantation, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Cell Lineage, Registries, Preschool, Child, Danazol, Cytopenia, Drug Substitution, business.industry, Hematopoietic Stem Cell Transplantation, Bone marrow failure, Infant, Hematology, Bone Marrow Failure Disorders, Middle Aged, medicine.disease, Combined Modality Therapy, Thrombocytopenia, Virilism, Treatment Outcome, Oxymetholone, Child, Preschool, 030220 oncology & carcinogenesis, Androgens, Disease Progression, Female, Complication, business, Dyskeratosis congenita, 030215 immunology, medicine.drug
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المؤلفون: Roona Sinha, Mariana Silva, Lawrence Jardine, Lisa Goodyear, Stephen W. Scherer, Michaela Cada, Supanun Lauhasurayotin, Conrad V. Fernandez, Geoff D.E. Cuvelier, Lillian Sung, Hongbing Li, Yigal Dror, Catherine Corriveau-Bourque, Jeffrey H. Lipton, Robert J. Klaassen, Sharon Abish, Bozana Zlateska, Josee Brossard, MacGregor Steele, Bruno Michon, Vicky R. Breakey, Yves D. Pastore, Iren Shabanova, Santhosh Dhanraj, Meera Rayar
المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-12 (2019)
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Genetic testing, lcsh:QH426-470, lcsh:Medicine, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Copy-number variation, Diamond–Blackfan anemia, Molecular Biology, Genetics (clinical), Cytopenia, medicine.diagnostic_test, Genetic heterogeneity, Point mutation, lcsh:R, Bone marrow failure, medicine.disease, FANCA, 3. Good health, lcsh:Genetics, 030104 developmental biology, Medical genomics, 030215 immunology
وصف الملف: application/pdf
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المؤلفون: Elisa Cohen, Catherine Corriveau-Bourque, Lillian Sung, Mariana Silva, Yigal Dror, Lawrence Jardine, Yeon Jung Lim, Meera Rayar, Robert J. Klaassen, Josee Brossard, Michaela Cada, Conrad V. Fernandez, Geoffrey D.E. Cuvelier, MacGregor Steele, Bozana Zlateska, Roona Sinha, Reena Pabari, Bruno Michon, Lisa Goodyear, Sharon Abish, Vicky R. Breakey, Jeffrey H. Lipton, Yves D. Pastore
المصدر: Blood. 134:2507-2507
مصطلحات موضوعية: medicine.medical_specialty, Cytopenia, business.industry, Proportional hazards model, medicine.medical_treatment, Immunology, Cell Biology, Hematology, Hematopoietic stem cell transplantation, medicine.disease, Biochemistry, Pancytopenia, Fanconi anemia, hemic and lymphatic diseases, Internal medicine, medicine, Diamond–Blackfan anemia, Congenital Neutropenia, business, Dyskeratosis congenita
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::554fb7e655e69dc2f46583c2eea16def
https://doi.org/10.1182/blood-2019-130129 -
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المؤلفون: Lillian Sung, Melanie Evelyn Kalbfleisch, Conrad V. Fernandez, Robert J. Klaassen, Tal Schechter-Finkelstein, Yeon Jung Lim, Roona Sinha, Jeffrey H. Lipton, Yves D. Pastore, Vicky R. Breakey, Lisa Goodyear, Mariana Silva, Lawrence Jardine, Sharon Abish, Meera Rayar, Josee Brossard, Yigal Dror, Geoffrey D.E. Cuvelier, Omri Avraham Arbiv, Mark Belletrutti, Bozana Zlateska, Michaela Cada, Bruno Michon, MacGregor Steele
المصدر: Blood. 134:5015-5015
مصطلحات موضوعية: Cytopenia, medicine.medical_specialty, business.industry, medicine.medical_treatment, Immunology, Bone marrow failure, Cell Biology, Hematology, Hematopoietic stem cell transplantation, medicine.disease, Biochemistry, Transplantation, medicine.anatomical_structure, Fanconi anemia, hemic and lymphatic diseases, Internal medicine, medicine, Bone marrow, Diamond–Blackfan anemia, Congenital Neutropenia, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da8bd9c8c320d16811ed8c7f708607ca
https://doi.org/10.1182/blood-2019-121743 -
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المؤلفون: Jianhong Wu, Bozana Zlateska, Bruno Michon, M. Silva, Nicolas Waespe, Laurie J. Goodyear, Omri Avraham Arbiv, Nancy Robitaille, Sharon Abish, Michaela Cada, L. Sung, Conrad V. Fernandez, Roona Sinha, Josee Brossard, Geoffrey D.E. Cuvelier, Ibrahim Ghemlas, Vicky R. Breakey, Yigal Dror, Jeffrey H. Lipton, MacGregor Steele, Lawrence Jardine, Catherine Corriveau-Bourque, Robert J. Klaassen
المصدر: Paediatrics Publications
مصطلحات موضوعية: Adult, Male, Ribosomal Proteins, 0301 basic medicine, Canada, Adolescent, Genotype, Anemia, Biology, medicine.disease_cause, Bioinformatics, Pediatrics, Young Adult, 03 medical and health sciences, inherited bone marrow failure, syndromes, Genetics, medicine, Humans, Clinical significance, genetics, Diamond–Blackfan anemia, Child, Genetic Association Studies, Genetics (clinical), genotype‐phenotype correlation, Anemia, Diamond-Blackfan, Mutation, Hypoplastic anemia, Genitourinary system, Infant, Middle Aged, medicine.disease, Phenotype, anemia, 3. Good health, Diamond‐Blackfan anemia, 030104 developmental biology, Child, Preschool, Female, physical malformations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f4dcb10d61fba410908b87f742e35e
https://ir.lib.uwo.ca/paedpub/287 -
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المؤلفون: Amanda Wagner, Peter N. Ray, Joseph Beyene, Emma Reble, Stephen Meyn, MacGregor Steele, Bozana Zlateska, Jeffrey H. Lipton, Mariana Silva, Lawrence Jardine, Bruno Michon, Hongbing Li, Sharon Abish, Michaela Cada, John K. Wu, Roona Sinha, Santhosh Dhanraj, Robert J. Klaassen, Yves D. Pastore, Josee Brossard, Rochelle Yanofsky, Vicky R. Breakey, Yigal Dror, Lisa Goodyear, Ibrahim Ghemlas, Lillian Sung, Conrad V. Fernandez, Mark Belletrutti
المصدر: Paediatrics Publications
مصطلحات موضوعية: medicine.medical_specialty, Hemoglobinuria, Paroxysmal, Bioinformatics, Sensitivity and Specificity, DNA sequencing, symbols.namesake, Genotype, Genetics, Humans, Medicine, Medical diagnosis, Bone Marrow Diseases, Genotyping, Genetics (clinical), Genetic testing, Sanger sequencing, medicine.diagnostic_test, business.industry, Anemia, Aplastic, High-Throughput Nucleotide Sequencing, Cancer, Sequence Analysis, DNA, Bone Marrow Failure Disorders, medicine.disease, Mutation, symbols, Medical genetics, Patient Care, business
وصف الملف: application/pdf
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المؤلفون: Roona Sinha, Conrad V. Fernandez, John K. Wu, Nicolas Waespe, Geoff D.E. Cuvelier, MacGregor Steele, Hongbing Li, Mariana Silva, Tom Enbar, Yigal Dror, Lawrence Jardine, Elena Tsangaris, Vicky R. Breakey, Jeffrey H. Lipton, Bozana Zlateska, Stephen W. Scherer, Josee Brossard, Santhosh Dhanraj, Bruno Michon, Robert J. Klaassen, Manju Wahala, Sharon Abish, Mark Belletrutti, Liat Kofler, Michaela Cada, Mary Shago, Yves D. Pastore, Lillian Sung, Lisa Goodyear
المصدر: Paediatrics Publications
NPJ Genomic Medicine
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic testing, endocrine system diseases, Genotype, Genetic predisposition to disease, Single-nucleotide polymorphism, QH426-470, Biology, Bioinformatics, Short stature, Pediatrics, Article, Genomic analysis, Paediatric cancer, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Genetics, Copy-number variation, Clinical genetics, Molecular Biology, Genetics (clinical), Cancer, Comparative genomic hybridization, medicine.diagnostic_test, Genetic heterogeneity, Biological techniques, High-throughput screening, 3. Good health, Biological sciences, 030104 developmental biology, 030220 oncology & carcinogenesis, Medicine, Medical genetics, medicine.symptom
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6d7d6110d94bd4feb3bf9bbcb88bb9
https://ir.lib.uwo.ca/context/paedpub/article/1054/viewcontent/The_clinical_impact_of_copy_number_variants_in_inherited_bone.pdf