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1Academic Journal
المؤلفون: Marcin W. Wlodarski, Lydie Da Costa, Marie-Françoise O’Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainmann, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M. di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H. Houtkooper, Thierry Leblanc, Charlotte M. Niemeyer, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
المصدر: Haematologica, Vol 103, Iss 6 (2018)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Horst von Bernuth, Bella Shadur, Klaus Warnatz, Jing-Ya Ding, Uwe Kölsch, Claudia M. Trujillo-Vargas, Petra Kaiser-Labusch, Ana Garcia Garcia, Cheng-Lung Ku, Hermann Eibel, Melanie Boerries, Polina Stepensky, Marta Rizzi, Natalie Frede, Stephan Ehl, Claudia Bossen, Sergio D. Rosenzweig, Laia Alsina, Peter Tobias Felixberger, Baerbel Keller, Roland Elling, Geoffroy Andrieux, Kimberly Gilmour, Satoshi Okada, Anne Rensing-Ehl, Marjolein Wentink, Ulrich Salzer, Carsten Speckmann, Cindy S. Ma, Alexandra Nieters, Paul Gray, Heiko Becker, Tadej Avcin, Vladimir Benes, Bodo Grimbacher, Florian Gothe, Gulbu Uzel, Susanne Usadel, Hye Sun Kuehn, Julia Vasconcelos, Gašper Markelj, Mirjam van der Burg, Jean-Laurent Casanova, Claire Fieschi, José Luis Franco, Lucía Victoria Erazo-Borrás, Susanne Unger, Alexandru Vlagea, Ina Hainmann, Ina Harder, Stuart G. Tangye, Elizabeth Ralph, Kathryn Payne, Reinhard E. Voll, Jonathan J. M. Landry, Valentina Strohmeier, Jens Thiel, Danielle T. Avery, Margarida Guedes, Sophie Hambleton, Nils Venhoff, Manfred Fliegauf
المساهمون: Immunology
المصدر: Science immunology, 6(64):eabh0891. American Association for the Advancement of Science
Science Immunology, 6(64). AMER ASSOC ADVANCEMENT SCIENCEمصطلحات موضوعية: medicine.anatomical_structure, SDG 3 - Good Health and Well-being, Chemistry, T cell, Immunology, medicine, chemical and pharmacologic phenomena, hemic and immune systems, General Medicine, Acquired immune system, Peripheral blood
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المؤلفون: Dagmar Dilloo, Andreas Müller, Heiko Reutter, Fabian Ebach, Ina Hainmann, Anna Maria Eis-Hübinger, Gabriele Escherisch
المصدر: JAMA
مصطلحات موضوعية: 2019-20 coronavirus outbreak, ARDS, Respiratory Distress Syndrome, Coronavirus disease 2019 (COVID-19), business.industry, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), medicine.medical_treatment, Lymphoblastic Leukemia, COVID-19, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Precursor Cell Lymphoblastic Leukemia Lymphoma, Extracorporeal Membrane Oxygenation, Oncology, Pediatrics, Perinatology and Child Health, Immunology, Extracorporeal membrane oxygenation, Medicine, Humans, business, Child, Original Investigation
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المؤلفون: Marc Ansari, Charlotte M. Niemeyer, Ansgar Schulz, Amina Szvetnik, Thierry Leblanc, Peter Lang, Bernd Gruhn, Ingo Müller, Peter Bader, Felicia Loewecke, Yves Bertrand, Marcin W. Wlodarski, Ina Hainmann, Peter Noellke, Lydie Da Costa, Jean-Hugues Dalle, Brigitte Strahm, Tayfun Güngör, Alina Ferster, Birgit Burkhardt, Michael H. Albert, Friedrich G. Kapp, Alexandra Fischer
المصدر: Blood Advances, 4 (8
Blood advances, Vol. 4, No 8 (2020) pp. 1760-1769مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Graft vs Host Disease / etiology, Anemia, medicine.medical_treatment, Graft vs Host Disease, Hematopoietic stem cell transplantation, Unrelated Donor, Statistical significance, Internal medicine, medicine, Humans, Cumulative incidence, Diamond–Blackfan anemia, Child, Aged, Anemia, Diamond-Blackfan, Retrospective Studies, Transplantation, ddc:618, Cancer predisposition, business.industry, Hematopoietic Stem Cell Transplantation / adverse effects, Hematopoietic Stem Cell Transplantation, Généralités, Hematology, medicine.disease, Confidence interval, surgical procedures, operative, Anemia, Diamond-Blackfan / therapy, business, Unrelated Donors
وصف الملف: 1 full-text file(s): application/pdf
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المؤلفون: Ilka Fuchs, Kai Lehmberg, Udo zur Stadt, Roland Elling, Benedikt Spielberger, Carla N. Castro, Carsten Speckmann, Petra Kaiser-Labusch, Julian Thalhammer, Sebastian Fuchs, Christian Klemann, Robbert G. M. Bredius, Philipp Henneke, Sandra Ammann, Maximilian Heeg, Lydia Martin-Martin, Ina Hainmann, Caroline von Spee-Mayer, Stephan Ehl, Gerd Horneff
مصطلحات موضوعية: Male, Primary (chemistry), medicine.diagnostic_test, business.industry, Immunology, Immunologic Deficiency Syndromes, Flow Cytometry, Immunity, Innate, Monocytes, Flow cytometry, Immunity, medicine, Immunology and Allergy, Humans, Female, business
وصف الملف: application/pdf
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المؤلفون: Dominika Danda, Marcin W. Wlodarski, Riekelt H. Houtkooper, Ina Hainmann, Marie-Françoise O'Donohue, Victor B Pastor, Charlotte M. Niemeyer, Amina Szvetnik, Thierry Leblanc, Narjesse Karboul, Anna Aspesi, Marc Gastou, Lydie Da Costa, Nahuel A. Paolini, Abed Abu Quider, Alyson W. MacInnes, Pierre-Emmanuel Gleizes, Hannah Tamary, Franca di Summa, Nathalie Montel-Lehry
المساهمون: Landsteiner Laboratory, Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, APH - Aging & Later Life, ARD - Amsterdam Reproduction and Development, AP-HP, Service d'Hématologie Biologique, Hôpital Robert-Debré, Hématopoïèse normale et pathologique (U1170 Inserm), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de recherche translationnelle, Institut Curie [Paris], Pediatric Hematology Unit (Pediatric Hematology Unit), Schneider Children's Medical Center of Israel, Dept. Medical Sciences, Università degli Studi del Piemonte Orientale - Amedeo Avogadro (UPO), The Beatson Institute for Cancer Research, University of Glasgow, Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), 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), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Haematologica, 103(6), 949-958. Ferrata Storti Foundation
Haematologica
Haematologica, Ferrata Storti Foundation, 2018, 103 (6), pp.949-958. ⟨10.3324/haematol.2017.177980⟩مصطلحات موضوعية: 0301 basic medicine, Mutation, business.industry, [SDV]Life Sciences [q-bio], Point mutation, Bone marrow failure, Hematology, Gene mutation, medicine.disease_cause, medicine.disease, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Hydrops fetalis, Immunology, Genotype, medicine, Missense mutation, Diamond–Blackfan anemia, business, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b0c4781067985667cd54f64eee6e46
https://pure.amc.nl/en/publications/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamondblackfan-anemia(9cf9c4c9-b6ae-4d35-a585-7926591a3fd0).html -
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المؤلفون: Marcin W, Wlodarski, Lydie, Da Costa, Marie-Françoise, O'Donohue, Marc, Gastou, Narjesse, Karboul, Nathalie, Montel-Lehry, Ina, Hainmann, Dominika, Danda, Amina, Szvetnik, Victor, Pastor, Nahuel, Paolini, Franca M, di Summa, Hannah, Tamary, Abed Abu, Quider, Anna, Aspesi, Riekelt H, Houtkooper, Thierry, Leblanc, Charlotte M, Niemeyer, Pierre-Emmanuel, Gleizes, Alyson W, MacInnes
المصدر: Haematologica
مصطلحات موضوعية: Erythrocyte Indices, Male, Ribosomal Proteins, Genotype, Hydrops Fetalis, DNA Mutational Analysis, Pregnancy Complications, Hematologic, Apoptosis, Cell Differentiation, Genes, p53, Article, Cell Line, Pedigree, Phenotype, Pregnancy, Protein Biosynthesis, Mutation, Humans, Female, Genetic Predisposition to Disease, Red Cell Biology & its Disorders, Biomarkers, Genetic Association Studies, Anemia, Diamond-Blackfan, Cell Proliferation
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المؤلفون: Ina Hainmann, Michael Barth, Ingrid Bartsch, Kirstin Sandrock, Anja Busse, Uta Tacke, Barbara Zieger, Andreas Greinacher, Brigitte Strahm, Martin Bommer, Andrea Superti-Furga, Anna Pavlova, Johannes Oldenburg, François Lanza, Paquita Nurden
المصدر: Thrombosis and Haemostasis. 106:475-483
مصطلحات موضوعية: Blood Platelets, Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Cell Cycle Proteins, 030204 cardiovascular system & hematology, Biology, Platelet membrane glycoprotein, Disease-Free Survival, Exocytosis, Bernard–Soulier syndrome, Factor IX, 03 medical and health sciences, 0302 clinical medicine, Microscopy, Electron, Transmission, Internal medicine, Thrombocytopathy, Immune Tolerance, medicine, Polymicrogyria, Humans, Secretion, Platelet, Bone Marrow Transplantation, Sequence Deletion, Neurons, chemistry.chemical_classification, Secretory Pathway, Secretory Vesicles, Homozygote, Bernard-Soulier Syndrome, Hematology, Cortical dysplasia, medicine.disease, Malformations of Cortical Development, 030104 developmental biology, Endocrinology, chemistry, Child, Preschool, Glycoprotein, Septins
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المؤلفون: K. Schmidt, Nina Rombach, L. Nakamura, Ina Hainmann, B. Zieger, Ingrid Bartsch, Kirstin Sandrock, Anja Busse
المصدر: Klinische Pädiatrie. 222:168-174
مصطلحات موضوعية: Adult, Male, Excessive Bleeding, medicine.medical_specialty, Bleeding Time, Genotype, Platelet Function Tests, DNA Mutational Analysis, Cardiomyopathy, Compound heterozygosity, Gastroenterology, Frameshift mutation, Young Adult, Internal medicine, medicine, Humans, Restrictive lung disease, Age of Onset, Child, Frameshift Mutation, Pathological, Alleles, business.industry, Genetic Carrier Screening, Exons, Sequence Analysis, DNA, medicine.disease, Oculocutaneous albinism, eye diseases, Pedigree, Phenotype, Codon, Nonsense, Hermanski-Pudlak Syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, Hermansky–Pudlak syndrome, business
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المؤلفون: Ina Hainmann, H. Berna Beverloo, Jules P.P. Meijerink, Anne R. M. von Bergh, Gudmar Lönnerholm, Laura J. C. M. van Zutven, Ellen van Drunen, Elisabeth R. van Wering, Rob Pieters
المساهمون: Clinical Genetics, Molecular Genetics, Pediatrics
المصدر: Genes Chromosomes & Cancer, 45, 731-739. Wiley-Liss Inc.
مصطلحات موضوعية: Male, Oncology, Cancer Research, medicine.medical_specialty, Oncogene Proteins, Fusion, Biology, Translocation, Genetic, Cohort Studies, hemic and lymphatic diseases, Internal medicine, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Homeodomain Proteins, Acute leukemia, Chromosomes, Human, Pair 12, Models, Genetic, Proto-Oncogene Proteins c-ets, Incidence (epidemiology), Breakpoint, Infant, Newborn, Infant, Chromosome Breakage, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Repressor Proteins, ETV6, Leukemia, Fusion transcript, Leukemia, Myeloid, Child, Preschool, Acute Disease, Immunology, Female, Ectopic expression, Chromosome breakage, Chromosomes, Human, Pair 7, Transcription Factors
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المؤلفون: Barbara Zieger, Julia Horn, Heike Bauer, Daniela Wunderle, Sandra Strümpell, Paquita Nurden, Paul Würmell, Ina Hainmann, Susanne Bläser, Axel Pagenstecher, Anja Busse
المصدر: Thrombosis and Haemostasis. 91:959-966
مصطلحات موضوعية: Blood Platelets, Macromolecular Substances, macromolecular substances, Biology, Septin, Serotonin secretion, Exocytosis, GTP Phosphohydrolases, GTP-binding protein regulators, Two-Hybrid System Techniques, Protein Interaction Mapping, Humans, Platelet, Secretion, Septin complex, Gene Library, Secretory Vesicles, fungi, Membrane Proteins, Hematology, Cell biology, Cytoskeletal Proteins, Protein Transport, biological phenomena, cell phenomena, and immunity, Septins, Cytokinesis, Protein Binding
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المؤلفون: Anja Busse, Ina Hainmann, Barbara Zieger, Daniela Wunderle, Susanne Bläser, Wolfgang Zieger, Katrin Jersch
المصدر: Gene. 312:313-320
مصطلحات موضوعية: Male, DNA, Complementary, Molecular Sequence Data, Cell Cycle Proteins, Nerve Tissue Proteins, GTPase, Biology, Septin, Gene Expression Regulation, Enzymologic, GTP Phosphohydrolases, Mice, Complementary DNA, Genetics, Animals, Humans, Transferase, splice, Amino Acid Sequence, RNA, Messenger, Base Sequence, Sequence Homology, Amino Acid, cDNA library, Alternative splicing, Membrane Proteins, Exons, Sequence Analysis, DNA, General Medicine, Blotting, Northern, Introns, Isoenzymes, Alternative Splicing, Genes, Female, Septins, Cytokinesis, Protein Binding
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المؤلفون: Myriam Ricarda Lorenz, Alyson W. MacInnes, Marena R. Niewisch, Sule Unal, Charlotte M. Niemeyer, Ina Hainmann, Hélène Dollfus, Müge Gökçe, Victor Pastor Loyola, Enikoe Amina Szvetnik, Thierry Leblanc, Marie-Françoise O'Donohue, Thomas Wiesel, Tamas Farkas, Klaus Schwarz, Sushree Sangita Sahoo, Eusebia Lara-Villacanas, Naz Guleray, Stephan Ehl, Doris Steinemann, Christian Klemann, Marcin W. Wlodarski, Michael S. Hershfield, Regine Grosse, Lydie Da Costa, Pierre-Emmanuel Gleizes, Gabriele Escherich
المصدر: Blood. 130:874-874
مصطلحات موضوعية: 0301 basic medicine, Anemia, business.industry, medicine.medical_treatment, Immunology, Pure red cell aplasia, Cell Biology, Hematology, Hematopoietic stem cell transplantation, medicine.disease, Biochemistry, Adenosine deaminase deficiency, Hypogammaglobulinemia, 03 medical and health sciences, 030104 developmental biology, medicine, Missense mutation, Diamond–Blackfan anemia, Haploinsufficiency, business
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المؤلفون: Hon Tran, Jerry Ware, Andrea Zgaga-Griesz, B. Zieger, Susanne Bläser, Ina Hainmann, Daniela Wunderle
المصدر: Gene. 261:197-203
مصطلحات موضوعية: Transcription, Genetic, Chromosomes, Human, Pair 22, Blotting, Western, Molecular Sequence Data, Gene Expression, Cell Cycle Proteins, HL-60 Cells, Computational biology, Biology, Septin, Exon, Complementary DNA, Expression analysis, Tumor Cells, Cultured, Genetics, Humans, Protein Isoforms, Tissue Distribution, Amino Acid Sequence, RNA, Messenger, Gene, Base Sequence, Sequence Homology, Amino Acid, Intron, Chromosome Mapping, Translation (biology), Exons, General Medicine, Blotting, Northern, Introns, Yeast, Genes, Female, K562 Cells, Septins, Chromosomes, Human, Pair 17, HeLa Cells
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المؤلفون: J. Al-Jamali, J. Heiss, H. Zajonc, Vytautas Ivaskevicius, U. Budde, Andrea Superti-Furga, M. Erlacher, Johannes Oldenburg, M. Uhl, Barbara Zieger, Ina Hainmann
المصدر: Haemophilia. 15:980-982
مصطلحات موضوعية: medicine.medical_specialty, Necrosis, Afibrinogenaemia, business.industry, medicine, Hematology, General Medicine, medicine.symptom, business, Genetics (clinical), Surgery
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المؤلفون: M. Gothwal, S. Rost, B. Zieger, U. Koehler, L. Nakamura, Johannes Oldenburg, F. Schilling, Ina Hainmann
المصدر: Klinische Padiatrie. 225(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, DNA Mutational Analysis, Mutation, Missense, Consanguinity, Hemophilia A, Sex Chromosome Aberrations, Intellectual Disability, Chromosome Duplication, medicine, Humans, Language Development Disorders, Psychiatry, Oligonucleotide Array Sequence Analysis, Psychomotor learning, Chromosomes, Human, X, Factor VIII, business.industry, Follow up studies, Moderate hemophilia A, Infant, Molecular analysis, Pedigree, Child Development Disorders, Pervasive, Child, Preschool, Pediatrics, Perinatology and Child Health, Psychomotor Disorders, business, Follow-Up Studies
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المؤلفون: James B. Bussel, Ina Hainmann, Axel Matzdorff, Paula H B Bolton-Maggs, Mohsen Saleh Elalfy, Hannes Müller-Beissenhirtz, Alicia Rovó, Bertrand Godeau, André Tichelli, John D. Grainger, Hugo Donato
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Purpura, Thrombocytopenic, Idiopathic, business.industry, Frequently asked questions, MEDLINE, Medizin, Autoimmunity, Hematology, General Medicine, Newly diagnosed, Expert group, Immune thrombocytopenia, Chronic disease, immune system diseases, Bone Marrow, hemic and lymphatic diseases, Chronic Disease, Medicine, Treatment strategy, Humans, Antigens, Human Platelet, business, Child
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المؤلفون: B. Zieger, Ina Hainmann, Johannes Oldenburg, A. Pavlova, Andrea Superti-Furga
المصدر: Hamostaseologie. 29(2)
مصطلحات موضوعية: Genotype, Mutation, Missense, Hemorrhage, medicine.disease_cause, Compound heterozygosity, Exon, chemistry.chemical_compound, Medicine, Missense mutation, Humans, Gene, Factor X Deficiency, Genetics, Mutation, business.industry, Factor X, Infant, Hematology, Exons, Phenotype, chemistry, Female, business, Gene Deletion
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المؤلفون: C. Bender, Ina Hainmann, Barbara Zieger, A. Roth, S. Dittrich, U. Budde, P. Buck, M. Henschen
المصدر: Zeitschrift für Geburtshilfe und Neonatologie. 212
مصطلحات موضوعية: Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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المؤلفون: L. Nakamura, Ina Hainmann, B. Zieger, P. Greiner, T. Woltering, T. Podskarbi, Johannes Oldenburg
المصدر: Klinische Pädiatrie. 225:174-175
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, DNA Mutational Analysis, Disease, Hemophilia A, Hepatolenticular Degeneration, Liver Function Tests, medicine, Humans, Cation Transport Proteins, Ultrasonography, Adenosine Triphosphatases, Factor VIII, business.industry, Genetic Carrier Screening, Penicillamine, Introns, Vitamin B 6, Early Diagnosis, Copper-Transporting ATPases, Chromosome Inversion, Pediatrics, Perinatology and Child Health, Severe haemophilia A, Chromosome Deletion, business
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