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1دورية أكاديمية
المؤلفون: Kobi Snitz, Danielle Honigstein, Reut Weissgross, Aharon Ravia, Eva Mishor, Ofer Perl, Shiri Karagach, Abebe Medhanie, Nir Harel, Sagit Shushan, Yehudah Roth, Behzad Iravani, Artin Arshamian, Gernot Ernst, Masako Okamoto, Cindy Poo, Niccolò Bonacchi, Zachary Mainen, Erminio Monteleone, Caterina Dinnella, Sara Spinelli, Franklin Mariño-Sánchez, Camille Ferdenzi, Monique Smeets, Kazushige Touhara, Moustafa Bensafi, Thomas Hummel, Johan N. Lundström, Noam Sobel
المصدر: Communications Medicine, Vol 2, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2730-664X
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2دورية أكاديمية
المؤلفون: Ilja Croijmans, Daniel Beetsma, Henk Aarts, Ilse Gortemaker, Monique Smeets
المصدر: PLoS ONE, Vol 16, Iss 11 (2021)
وصف الملف: electronic resource
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المؤلفون: Alistair M. Chalk, Monique Smeets, Iva Nikolic, Jane Jialu Xu, Carl R. Walkley, Kaylene J. Simpson
المصدر: Blood Advances. 6:2092-2106
مصطلحات موضوعية: Spliceosome, Mutation, Serine-Arginine Splicing Factors, DNA repair, DNA damage, RNA Splicing, Mutant, Hematology, Biology, Cell cycle, medicine.disease_cause, Cell biology, Leukemia, Myeloid, Acute, Mice, Myelodysplastic Syndromes, RNA splicing, medicine, biology.protein, Animals, Humans, Cyclin-dependent kinase 6
وصف الملف: image/png; application/pdf
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المؤلفون: Rowan Goswina Monique Smeets
المساهمون: Ruwaard, Dirk, Elissen, Arianne, Kroese, Mariëlle, Health Services Research, RS: CAPHRI - R2 - Creating Value-Based Health Care
مصطلحات موضوعية: primary care, person-centered care, realist evaluation, integrated care
وصف الملف: application/pdf; image/jpeg
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa276678493f0f80bc73eefa866d2e1
https://cris.maastrichtuniversity.nl/en/publications/be01fe92-e999-42ee-ac48-4fb648acc183 -
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المصدر: Mol Cell Biol
مصطلحات موضوعية: tumor suppressor, Biology, medicine.disease_cause, Gene dosage, familial cancer syndrome, Germline, 03 medical and health sciences, 0302 clinical medicine, RecQ, osteosarcoma, medicine, Null cell, mouse models, Molecular Biology, Rothmund–Thomson syndrome, 030304 developmental biology, 0303 health sciences, Rothmund-Thomson syndrome, RECQL4, Cell Biology, medicine.disease, Null allele, Phenotype, osteoporosis, 030220 oncology & carcinogenesis, myeloid cells, Cancer research, osteoblast, Carcinogenesis, Haploinsufficiency, Research Article
وصف الملف: application/pdf
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6
مصطلحات موضوعية: Osteoblast, Biology, medicine.disease, medicine.disease_cause, Null allele, Phenotype, Germline, medicine.anatomical_structure, medicine, Cancer research, Null cell, Haploinsufficiency, Carcinogenesis, Rothmund–Thomson syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9dcfab24a0fd1a0d325910115205ec2
https://doi.org/10.1101/2020.11.11.379214 -
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المؤلفون: Joerg Heierhorst, Rui Liu, Monique Smeets, Charlotte Hodson, Carl R. Walkley, Wilson Castillo-Tandazo, Vincent J. Murphy, Andrew J. Deans
المصدر: PLoS Genetics, Vol 15, Iss 7, p e1008266 (2019)
PLoS Geneticsمصطلحات موضوعية: Cancer Research, B Cells, RecQ helicase, T-Lymphocytes, QH426-470, medicine.disease_cause, Biochemistry, Mice, White Blood Cells, 0302 clinical medicine, Adenosine Triphosphate, Animal Cells, Medicine and Health Sciences, ATP-dependent helicase activity, Gene Knock-In Techniques, Rothmund–Thomson syndrome, Genetics (clinical), 0303 health sciences, Mutation, B-Lymphocytes, biology, RecQ Helicases, T Cells, Rothmund-Thomson Syndrome, Phenotype, Null allele, Cell biology, Enzymes, Nucleic acids, Helicases, Cellular Types, Research Article, Immune Cells, Immunology, Embryonic Development, 03 medical and health sciences, Protein Domains, DNA-binding proteins, medicine, Genetics, Animals, Humans, Point Mutation, Antibody-Producing Cells, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Binding Sites, Blood Cells, Point mutation, Body Weight, Helicase, Biology and Life Sciences, Proteins, Cell Biology, DNA, medicine.disease, Hematopoiesis, Disease Models, Animal, biology.protein, Enzymology, DNA damage, 030217 neurology & neurosurgery
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المؤلفون: Monique Smeets, Jane Jialu Xu, Shuh Ying Tan, Meaghan Wall, Louise E. Purton, Carl R. Walkley
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Spliceosome, RNA splicing, mouse model, Biology, medicine.disease_cause, Genome, Mice, 03 medical and health sciences, Splicing factor, 0302 clinical medicine, hemic and lymphatic diseases, Genetics, medicine, Animals, Humans, Allele, myeloproliferative disease, Molecular Biology, Gene, Mutation, Neoplasms, Experimental, Cell Biology, Hematology, Phenotype, Hematopoiesis, myelodysplastic syndrome, 030104 developmental biology, Hematologic Neoplasms, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, Spliceosomes, RNA Splicing Factors, spliceosome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5688be227b150904fa281cad7362cab0
https://acuresearchbank.acu.edu.au/item/8q371/modeling-human-rna-spliceosome-mutations-in-the-mouse-not-all-mice-were-created-equal -
93059 – PROTEIN TRUNCATING, BUT NOT HELICASE INACTIVATING, RECQL4 MUTATIONS CAUSE BONE MARROW FAILURE
المؤلفون: Monique Smeets, Carl R. Walkley, Wilson Castillo-Tandazo
المصدر: Experimental Hematology. 88:S56
مصطلحات موضوعية: Cancer Research, Mutation, Point mutation, HOXB8, Bone marrow failure, Cell Biology, Hematology, Biology, medicine.disease, medicine.disease_cause, Null allele, Molecular biology, Complementation, Haematopoiesis, medicine.anatomical_structure, Genetics, medicine, Bone marrow, Molecular Biology
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المؤلفون: Carl R. Walkley, Jane xu, Meaghan Wall, Monique Smeets
المصدر: Experimental Hematology. 88:S84
مصطلحات موضوعية: Cancer Research, Mutation, Myeloid, Hypocellular Bone Marrow, Monoblast, Cell Biology, Hematology, Gene mutation, Biology, medicine.disease_cause, medicine.disease, Haematopoiesis, medicine.anatomical_structure, Monocytosis, hemic and lymphatic diseases, Genetics, medicine, Cancer research, Leukocytosis, medicine.symptom, Molecular Biology