-
1دورية أكاديمية
المؤلفون: Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming
المصدر: Haematologica, Vol 103, Iss 12 (2018)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
-
2
المؤلفون: Yann Ilboudo, Guillaume Lettre, Jeffrey S. Dlott, Manoj Bhasin, Beena E Thomas, Seth L. Alper, Carlo Brugnara, Swati S. Bhasin, Alicia Rivera, Jay Wohlgemuth, Colin A. Sieff, David H. Vandorpe, Boris E. Shmukler, L. Michael Snyder
المصدر: Haematologica. 106:2759-2762
مصطلحات موضوعية: Permeability (electromagnetism), Chemistry, Biophysics, medicine, Hematology, medicine.disease, Communication channel, Hereditary spherocytosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::728566b6c8a6fab8cef415f632c9e5ca
https://doi.org/10.3324/haematol.2021.278770 -
3
المؤلفون: Chad Nusbaum, Melisa Ruiz-Gutierrez, Akiko Shimamura, Cailin E. Joyce, Colin A. Sieff, Inga Hofmann, Assieh Saadatpour, Dolly D. Thomas, Jennifer Whangbo, Kasiani C. Myers, Guo-Cheng Yuan, Towia A. Libermann, Özge Vargel Bölükbaşı, Sarah Young, Lan Jiang, Carl D. Novina
المصدر: Journal of Clinical Investigation. 129:3821-3826
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cell, Antigens, CD34, Biology, Monocytes, Transforming Growth Factor beta1, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, Transforming Growth Factor beta, Internal medicine, medicine, Humans, Cell Lineage, Phosphorylation, Progenitor cell, Child, Inflammation, Hematology, Sequence Analysis, RNA, Concise Communication, Bone marrow failure, Cell Differentiation, General Medicine, SBDS, Hematopoietic Stem Cells, medicine.disease, Shwachman-Diamond Syndrome, Hematopoiesis, Haematopoiesis, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Cancer research, Bone marrow, Stem cell, Granulocytes, Signal Transduction
-
4
المؤلفون: Peter E. Newburger, L. Kate Gowans, David W. Speicher, Desiree Medeiros, Donna A. Wall, Robin D. Hanson, Yelena Maksimova, Colin A. Sieff, Susan J. Baserga, Sara J. Israels, Patrick G. Gallagher, Nupur Mittal, Vincent P. Schulz, Roland Rivera-Santiago, Jennifer A. Rothman, Robert F. Sidonio, Kimberly Lezon-Geyda
المصدر: J Clin Invest
مصطلحات موضوعية: Male, 0301 basic medicine, RNA Splicing, Nonsense-mediated decay, Mutation, Missense, Biology, Anemia, Hemolytic, Congenital, Hereditary spherocytosis, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome sequencing, Genetics, Erythrocyte Membrane, Intron, Spectrin, General Medicine, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, Commentary, Female, Hereditary pyropoikilocytosis, RNA Splice Sites, Congenital hemolytic anemia, Minigene
-
5
المؤلفون: Lee Hilliard, Joëlle Rudinger-Thirion, Alexander J. Rennings, Magali Frugier, Richard J. Roodenburg, Lisa G. Riley, Leonor Arenillas, David P. Steensma, Josep Fita-Torró, Elie Bechara, Mark D. Fleming, Sylvia S. Bottomley, Gregory A. Hale, Janet L. Kwiatkowski, Rienk Y. J. Tamminga, Ronghao Zhou, Dean R. Campagna, Joel Kaplan, Miguel R. Abboud, Matthew M. Heeney, Colin A. Sieff, Nicolaas Schaap, Rasha Ahmed, John Christodoulou, Dorine W. Swinkels, Gerwin Huls, Mayka Sanchez, Tjitske Kleefstra, Roula Farah, Annet Simons
المساهمون: Stem Cell Aging Leukemia and Lymphoma (SALL), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Genetic Metabolic Disorders Research Unit, Westmead Hospital [Sydney]-Kids Research Institute, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Balamand University Medical School, Westmead Hospital [Sydney]
المصدر: Haematologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015مصطلحات موضوعية: 0301 basic medicine, Anemia, [SDV]Life Sciences [q-bio], Anèmia, TRANSFER-RNA SYNTHETASE, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Germline mutation, Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience [Radboudumc 7], Sideroblastic anemia, Mitochondrial myopathy, medicine, Missense mutation, HETEROGENEITY, Allele, MUTATION, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, IDENTIFICATION, Cancer development and immune defence RIHS: Radboud Institute for Health Sciences [Radboudumc 2], Hematology, medicine.disease, Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 11], 3. Good health, Fenotip, Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 2], Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030104 developmental biology, Lactic acidosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33db39b676f24e3649b6850f1684f6a
https://doi.org/10.3324/haematol.2017.182659 -
6
المؤلفون: Jason E. Farrar, Anupama Narla, Kelly Walkovich, Helge Hartung, Grzegorz Nalepa, Adrianna Vlachos, Evangelia Atsidaftos, Jeffrey M. Lipton, Mohammad Lutfi Lababidi, Jonathan Bernstein, Ellen Muir, Zora R. Rogers, Thomas W. Loew, Waseem Alhushki, Colin A. Sieff, Bertil Glader, Barbara Gruner, Christine M. Knoll, Arun R Panigrahi
المصدر: Pediatr Blood Cancer
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Anemia, medicine.medical_treatment, Pilot Projects, Hematopoietic stem cell transplantation, Short stature, Gastroenterology, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leucine, Internal medicine, medicine, Humans, Blood Transfusion, Diamond–Blackfan anemia, Adverse effect, Child, Anemia, Diamond-Blackfan, business.industry, Hematology, Middle Aged, medicine.disease, Prognosis, Combined Modality Therapy, Hematologic Response, Clinical trial, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Erythropoiesis, Feasibility Studies, Female, medicine.symptom, business, 030215 immunology, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f35da0422ca685604b2d6c0cfaafb63
https://europepmc.org/articles/PMC8273758/ -
7
المؤلفون: Colin A. Sieff
المصدر: Hematology/Oncology Clinics of North America. 32:569-580
مصطلحات موضوعية: Hemoglobinuria, Paroxysmal, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Bone Marrow, hemic and lymphatic diseases, medicine, Humans, Aplastic anemia, Bone Marrow Diseases, business.industry, Genetic Diseases, Inborn, Bone marrow failure, Anemia, Aplastic, Myeloid leukemia, Hematology, Bone Marrow Failure Disorders, medicine.disease, Pancytopenia, Leukemia, Myeloid, Acute, Haematopoiesis, Oncology, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, Mutation, Immunology, Stem cell, business, 030215 immunology
-
8
المؤلفون: Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry
المساهمون: Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School [Boston] (HMS), Duke University [Durham], Boston Children's Hospital, Laboratory of Human Genetics of Infectious Diseases, The Feinstein Institute for Medical Research, Laboratoire de biologie moléculaire eucaryote (LBME), Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Murdoch Children's Research Institute (MCRI), Stanley Center for Psychiatric Research, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Massachusetts Institute of Technology (MIT), Department of Neuroscience, Uppsala University, AP-HP, Service d'Hématologie Biologique, Hôpital Robert-Debré, Broad Institute of MIT and Harvard, Massachusetts Institute of Technology. Department of Biology
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummettمصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], Cohort Studies, Exon, 0302 clinical medicine, Exome, Diamond–Blackfan anemia, Child, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, Anemia, Diamond-Blackfan, Genetics, 0303 health sciences, education.field_of_study, Exons, 3. Good health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Intercellular Signaling Peptides and Proteins, Female, Ribosomal Proteins, Adolescent, Sequence analysis, Population, Biology, Article, 03 medical and health sciences, Exome Sequencing, medicine, Humans, education, Gene, Genetic Association Studies, Loss function, 030304 developmental biology, Phenocopy, Sequence Analysis, RNA, Genetic heterogeneity, Correction, medicine.disease, Human genetics, 030104 developmental biology, Mutation, Ribosomes, Gene Deletion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/octet-stream; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b986a5d91a95cc9f563054c8ec96f0
https://hal.archives-ouvertes.fr/hal-02328160 -
9
المؤلفون: Anant Vatsayan, Fedik Rahimov, Waleed Al-Herz, Colin A. Sieff, Mark D. Fleming, Basel K. al-Ramadi, E. Graham Davies, Michel J. Massaad, Martha Sola-Visner, Raif S. Geha, Narayanaswamy Ramesh, Haifa H. Jabara, Nancy C. Andrews, Wayne Bainter, Eli Silver, David Fraulino, Steven E. Boyden, Rand Arnaout, Salem H. Alshemmari, Sanjay P Ahuja, Louis M. Kunkel, Hasan Al-Dhekri, Mohammad Abu-Shukair, Zhi-Jian Liu, Janet Chou, Toshiro K. Ohsumi, Halli Benson, Luigi D. Notarangelo
المصدر: Nature Genetics. 48:74-78
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Lymphocyte, media_common.quotation_subject, Mutation, Missense, Cell Cycle Proteins, Transferrin receptor, Adaptive Immunity, Biology, Endocytosis, 03 medical and health sciences, Antigens, CD, Internal medicine, Receptors, Transferrin, Genetics, medicine, Animals, Humans, Missense mutation, Receptor, Internalization, Cells, Cultured, Immunodeficiency, media_common, Oncogene Proteins, chemistry.chemical_classification, B-Lymphocytes, Immunologic Deficiency Syndromes, Anemia, Fibroblasts, medicine.disease, Molecular biology, Mice, Mutant Strains, Pedigree, 3. Good health, Mice, Inbred C57BL, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Transferrin, Female, Oxidoreductases
-
10
المؤلفون: Colin A. Sieff
المصدر: Hematology/oncology clinics of North America. 32(4)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Anemia, MEDLINE, Genetic Diseases, Inborn, Hemoglobinuria, Paroxysmal, Anemia, Aplastic, Portraits as Topic, Hematology, Bone Marrow Failure Disorders, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Bone Marrow failure syndromes, medicine, Bone Marrow Diseases, Humans, Hemoglobinuria, business, 030215 immunology