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1دورية أكاديمية
المؤلفون: Yoonessi, Leila, Randhawa, Inderpal, Nussbaum, Eliezer, Saharti, Samah, Do, Paul, Chin, Terry, Zwerdling, Ted
المصدر: Journal of Pediatric Hematology/Oncology. 37(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Pediatric, Prevention, Clinical Research, Hematology, Inflammatory and immune system, Age of Onset, Blood Platelets, Humans, Infant, Male, Mutation, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Syndrome Protein, Wiskott-Aldrich syndrome, new mutation, normal platelet volume, Cardiorespiratory Medicine and Haematology, Oncology & Carcinogenesis, Cardiovascular medicine and haematology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/07v8483sTest
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المؤلفون: Filippo Brioschi, Rocco Piazza, Luca Mologni, Elisa Bossi, Ilaria Crespiatico, Carlo Gambacorti-Passerini
المساهمون: Crespiatico, I, Bossi, E, Brioschi, F, Piazza, R, Mologni, L, Gambacorti‐passerini, C
المصدر: Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 1, Pp 71-74 (2020)مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, resistance, 03 medical and health sciences, 0302 clinical medicine, chronic myeloid leukemia, Internal medicine, Tki resistance, hemic and lymphatic diseases, medicine, genetics, neoplasms, lcsh:R5-920, ABL, Hematology, business.industry, hematology, lcsh:R, Imatinib, General Medicine, TKI, 030220 oncology & carcinogenesis, Molecular Response, New mutation, Mutation (genetic algorithm), Cancer research, genetic, business, lcsh:Medicine (General), Bosutinib, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b70d9a8ef05e88499f044fe79c0014Test
http://europepmc.org/articles/PMC6982521Test -
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المؤلفون: Marcelo Leonardo Nenkies, Diana Noemi Garcia de Paoletti, Hugo A. Guglielmone, Antonio Girolami, Silvia Ferrari
المصدر: Cardiovascular & Hematological Disorders-Drug Targets. 19:169-173
مصطلحات موضوعية: Pharmacology, Pediatrics, medicine.medical_specialty, business.industry, Factor X, Heterozygote advantage, Hematology, General Medicine, Factor X deficiency, Compound heterozygosity, Asymptomatic, chemistry.chemical_compound, Exon, chemistry, Mutation (genetic algorithm), New mutation, medicine, Molecular Medicine, medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9cfacc9aadff857b6a58b4483749bcd8Test
https://doi.org/10.2174/1871529x19666181212103944Test -
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المؤلفون: George Nesr, Letizia Foroni, Simone Claudiani, Chloe Hayden, Pierre Foskett, Kathy Dominy, Jamshid S. Khorashad, Jane F. Apperley, Andrew J. Innes, Afzal Khan, Richard Szydlo, Dragana Milojkovic
المصدر: British journal of haematologyReferences. 193(2)
مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Blast Crisis, medicine.medical_treatment, Dasatinib, Fusion Proteins, bcr-abl, Comorbidity, Chronic myeloid leukaemia, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Nitriles, medicine, Humans, In patient, Adverse effect, Protein Kinase Inhibitors, Aged, Retrospective Studies, Aged, 80 and over, Aniline Compounds, Drug Tapering, business.industry, Remission Induction, Hematology, Middle Aged, respiratory tract diseases, Clinical Practice, Pyrimidines, Treatment Outcome, 030220 oncology & carcinogenesis, New mutation, Mutation, Imatinib Mesylate, Quality of Life, Quinolines, Dose reduction, Female, Safety, business, 030215 immunology, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4d5ddff497ddb437bf93ce09b5c2f8Test
https://pubmed.ncbi.nlm.nih.gov/33368155Test -
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المؤلفون: Stephen O. Brennan, Darrell Wang, Campbell R. Sheen, Mark Horridge
المصدر: Hemoglobin. 41:140-143
مصطلحات موضوعية: Adult, Lysis, Protein Stability, Chemistry, Hemoglobins, Abnormal, Protein subunit, Biochemistry (medical), Clinical Biochemistry, Hematology, Molecular biology, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation, New mutation, Humans, Female, Hb Amsterdam, Hemoglobin, Gene, Genetics (clinical), 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbe307f4d1f97bc81cc34ea015a2d60Test
https://doi.org/10.1080/03630269.2017.1311911Test -
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المؤلفون: Kanjaksha Ghosh, Kanchan Mishra, Shrimati Shetty, Avani Shah, Parizad Patel
المصدر: Mediterranean Journal of Hematology and Infectious Diseases
Mediterranean Journal of Hematology and Infectious Diseases, Vol 11, Iss 1, Pp e2019018-e2019018 (2019)مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Cryopyrin, Abdominal pain, medicine.medical_specialty, India, Familial Mediterranean fever, Case Report, 03 medical and health sciences, Acute Intermittent Porphyria, 0302 clinical medicine, Paroxysmal attack, medicine, Autoinflammatory syndrome, Stretchable skin, Inflammosome, Acute intermittent porphyria, 030203 arthritis & rheumatology, Porphyria, lcsh:RC633-647.5, business.industry, New mutation, lcsh:Diseases of the blood and blood-forming organs, Hematology, medicine.disease, Autoinflammatory Syndrome, Dermatology, 030104 developmental biology, Infectious Diseases, Hypermobility, medicine.symptom, business, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bc4edb13f747a678fc13ce9b6a839bTest
http://europepmc.org/articles/PMC6402545Test -
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المؤلفون: Qingyu Wang, Yonggen Zhang, Hongxiang Ding, Ping Ma, Yingyu Wang
المصدر: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 30(2)
مصطلحات موضوعية: Adult, Models, Molecular, Heterozygote, Protein Folding, Factor XI Deficiency, DNA Mutational Analysis, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, 03 medical and health sciences, 0302 clinical medicine, Asian People, Missense mutation, Humans, Gene, Factor XI, Menorrhagia, Heterozygous mutation, Genetics, Delayed wound healing, Wound Healing, Heterozygote advantage, Hematology, General Medicine, Pedigree, New mutation, Codon, Terminator, Female, Novel mutation, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689b96ebf6847a559f8e0448e1bc42b6Test
https://pubmed.ncbi.nlm.nih.gov/30720488Test -
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المصدر: American Journal of Hematology. 92:E38-E40
مصطلحات موضوعية: 0301 basic medicine, Genetics, Anemia, Hematology, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hemoglobinopathy, Low affinity, New mutation, medicine, 030212 general & internal medicine, Beta globin gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3e217937fe5a40bdaba18e360b5e6eacTest
https://doi.org/10.1002/ajh.24649Test -
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المؤلفون: Pierre Boisseau, Mathilde Giraud, Stéphane Bézieau, Marie A. Gourlaouen, Marie C. Béné, Nelly Robillard, Marc Fouassier, Thomas Besnard, Patricia Talarmain, Sinthuja Pachchek
المصدر: British Journal of Haematology. 180:750-752
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Inherited platelet disorder, 030104 developmental biology, Phospholipid scramblase, Scott syndrome, business.industry, New mutation, medicine, Hematology, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5feff4a38bdf7dcbc0c8e0eab7f34847Test
https://doi.org/10.1111/bjh.14439Test -
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المؤلفون: Andrea Candás, Aurora Feliu-Torres, Diego Fernandez, Berenice Milanesio, Carolina Pepe, Silvia Eandi Eberle, Carolina Cervio, Vanesa Avalos Gómez, Lilián Díaz, Fernando Aguirre, Adrian P. Mansini, Gabriela Sciuccati, Alejandro Chaves, Mariana Bonduel
المصدر: Hemoglobin. 38:444-446
مصطلحات موضوعية: Adult, Male, Hemoglobins, Abnormal, Thalassemia, Clinical Biochemistry, Argentina, beta-Globins, Biology, Frameshift mutation, Genotype, medicine, Humans, Family, Frameshift Mutation, Genetics (clinical), Genetics, Genes, Modifier, beta-Thalassemia, Biochemistry (medical), Hematology, medicine.disease, Phenotype, Blood smear, New mutation, Female, Intermedia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfdc1ef4518dc9c230292c8ebf1900bTest
https://doi.org/10.3109/03630269.2014.964361Test