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المؤلفون: Conn Rother, Armin Riecke, Niklas Gebauer, Hanno M Witte, Hartmut Merz, Arthur Bauer, Konrad Steinestel, Juliane Schneider, Thomas Mayer, Matthias A. Müller, Fabian Holzhausen
المصدر: Leukemia & Lymphoma. 62:3047-3050
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Shwachman–Diamond syndrome, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Hematology, SBDS, medicine.disease, Virology, 03 medical and health sciences, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Autoimmune neutropenia, medicine, business, Gene, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::533d512ff97a5acddece407ea3cca50dTest
https://doi.org/10.1080/10428194.2021.1941941Test -
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المؤلفون: Dieter Steinhilber, Annette Sethmann, Michael J. Parnham, Marina Henke, Thomas Ulshöfer, Susanne Schiffmann, Sandra Gunne
المساهمون: Publica
المصدر: Journal of Inflammation Research
مصطلحات موضوعية: 0301 basic medicine, KLK5, Angiogenesis, medicine.medical_treatment, Immunology, Inflammation, Pharmacology, Cathelicidin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, neutrophils, medicine, Immunology and Allergy, Original Research, Leukotriene, biology, MMP9, Chemistry, Elastase, sodium bituminosulfonate, SBDS, rosacea, Vascular endothelial growth factor, 030104 developmental biology, 030220 oncology & carcinogenesis, Arachidonate 5-lipoxygenase, biology.protein, 5 lipoxygenase, medicine.symptom, Journal of Inflammation Research
وصف الملف: text/html
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https://doi.org/10.2147/jir.s313636Test -
3Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study
المؤلفون: Maria G. Ipatova, Ekaterina A. Deordieva, Oksana A. Shvets, Anna A. Mukhina, Anna A. Moiseeva, Yulya A. Rodina, Petr V. Shumilov, Anna V. Pavlova, Elena V. Raikina, Aliy Yu. Asanov, Maria M. Litvinova, Anna Y. Shcherbina
المصدر: Voprosy Sovremennoj Pediatrii, Vol 18, Iss 5, Pp 393-400 (2020)
مصطلحات موضوعية: medicine.medical_specialty, shwachman-diamond syndrome, Anemia, Neutropenia, Compound heterozygosity, Gastroenterology, Pediatrics, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, children, 030225 pediatrics, Internal medicine, medicine, laboratory signs, Shwachman–Diamond syndrome, medicine.diagnostic_test, business.industry, Elastase, steatorrhea, Complete blood count, sbds gene, SBDS, medicine.disease, cytolysis syndrome, Steatorrhea, Pediatrics, Perinatology and Child Health, symptoms, medicine.symptom, business, stool elastase i
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba80fdc56affb5ce89907a13724d0f4Test
https://vsp.spr-journal.ru/jour/article/view/2239Test -
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المؤلفون: Lucas Morita, Emiko Saito Arita, Miki Hisatomi, Luciana Munhoz, Jun Ichi Asaumi, Aline Yukari Nagai
المصدر: Imaging Science in Dentistry
مصطلحات موضوعية: Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Mandibular base, Radiography, Mandible, Cortical plate, Computed tomography, 030206 dentistry, Anatomy, SBDS, Age and sex, Salivary Glands, 030218 nuclear medicine & medical imaging, Computed tomographic, Multidetector computed tomography, 03 medical and health sciences, 0302 clinical medicine, Radiography, Panoramic, medicine, Bone Cysts, Radiology, Nuclear Medicine and imaging, Original Article, business, General Dentistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109f3a9ea70e1aa67a16988056e0475bTest
http://europepmc.org/articles/PMC8007400Test -
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المؤلفون: Vasileios Kargas, Mélanie Parisot, Norberto Escudero-Urquijo, Alexis Bertrand, Christine Bellanné-Chantelot, Jean Donadieu, Mohammed Zarhrate, Patrick Nitschke, Cécile Masson, Laëtitia Kermasson, Beatriz Goyenechea, Sophie Kaltenbach, Alan J. Warren, David Traynor, Stefano Fumagalli, Li Jin, Blandine Beaupain, Bruno Reversade, Ahmed Z. Boukerrou, Peter J. Bond, M. Rossmann, Olivier Alibeu, Jean-Alain Martignoles, Christine Bole-Feysot, Jonathan Moreil, Shengjiang Tan, François Delhommeau, Patrick Revy, Kong Boo Phua, Alexandre Faille, Aurore Pouliet, Christine Hilcenko, Frédéric Tores, Isabelle Radford-Weiss, Ai Ling Koh, Isabelle Callebaut, Jean-Pierre de Villartay
المساهمون: Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), MRC Laboratory of Molecular Biology [Cambridge, UK] (LMB), University of Cambridge [UK] (CAM)-Medical Research Council, Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), KK Women's and Children's Hospital [Singapore], Genome Institute of Singapore (GIS), Bioinformatics Institute [Singapore], Agency for science, technology and research [Singapore] (A*STAR), National University of Singapore (NUS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement [IRD] : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Babraham Research Campus [Cambridge, Royaume-Uni], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Sorbonne Paris Cité (USPC), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development, Escudero-Urquijo, Norberto [0000-0002-8201-5884], Parisot, Mélanie [0000-0003-4312-2035], Reversade, Bruno [0000-0002-4070-7997], Bond, Peter J. [0000-0003-2900-098X], Bellanné-Chantelot, Christine [0000-0001-8415-6771], Warren, Alan J. [0000-0001-9277-4553], Revy, Patrick [0000-0003-0758-8022], Apollo - University of Cambridge Repository, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Hilcenko, Christine [0000-0002-9596-7833], Rossmann, Maxim [0000-0001-8811-3277], Bond, Peter J [0000-0003-2900-098X], Warren, Alan [0000-0001-9277-4553], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), HAL-SU, Gestionnaire, ANR-18-IDEX-0001,Université de Paris,Université de Paris(2018), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Warren, Alan J [0000-0001-9277-4553]
المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)مصطلحات موضوعية: Somatic cell, [SDV]Life Sciences [q-bio], General Physics and Astronomy, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Germline, 631/208/737, 692/699/1541, Ribosome assembly, 13/1, 0302 clinical medicine, hemic and lymphatic diseases, 38/22, Dictyostelium, Eukaryotic Initiation Factors, Child, Cells, Cultured, Biological Phenomena, Genetics, 0303 health sciences, Multidisciplinary, 631/208/514/2254, article, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Ribosome Subunits, Large, Eukaryotic, Ribosome, Shwachman-Diamond Syndrome, 3. Good health, [SDV] Life Sciences [q-bio], 64/24, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, 030220 oncology & carcinogenesis, Child, Preschool, Drosophila, Haematological diseases, Protein Binding, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Science, 45/23, Saccharomyces cerevisiae, Biology, Molecular Dynamics Simulation, General Biochemistry, Genetics and Molecular Biology, 82/80, 03 medical and health sciences, Young Adult, Germline mutation, Animals, Humans, Gene, Ribonucleoprotein, U5 Small Nuclear, 030304 developmental biology, Sequence Homology, Amino Acid, Eukaryotic Large Ribosomal Subunit, Point mutation, Infant, Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, General Chemistry, SBDS, 96/44, Peptide Elongation Factors, Germ Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Protein Biosynthesis, Mutation, Next-generation sequencing, 631/337/574/1789, Ribosomes
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a0a029184f8fcc8469d2a5ac081086Test
https://hal.archives-ouvertes.fr/hal-03366072Test -
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المؤلفون: Zhao-Shen Li, Hongyu Fu, Jiefang Guo, Yuxin Wang, Yuanhang Dong, Peng Wang, Yiqi Du
المصدر: Surgical Endoscopy. 35:576-583
مصطلحات موضوعية: Adult, Male, Enteroscopy, medicine.medical_specialty, Gastrointestinal bleeding, Abdominal pain, Adolescent, medicine.medical_treatment, Single Center, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Double-balloon enteroscopy, Internal medicine, Intestine, Small, Humans, Medicine, Prospective Studies, Child, Aged, Retrospective Studies, Aged, 80 and over, Double-Balloon Enteroscopy, medicine.diagnostic_test, business.industry, Middle Aged, SBDS, medicine.disease, Polypectomy, Endoscopy, Intestinal Diseases, Treatment Outcome, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Surgery, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd7e1386548494cae9de04fa9e8afbTest
https://doi.org/10.1007/s00464-020-07418-6Test -
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المؤلفون: Chin Ting Kao, Yi Ping Wang, Mu Hsiung Chen, Chun-Pin Chiang, Yu Hsueh Wu, Julia Yu Fong Chang
المصدر: Journal of Dental Sciences, Vol 14, Iss 4, Pp 378-382 (2019)
Journal of Dental Sciencesمصطلحات موضوعية: Molar, Radiodensity, Radiography, Mandibular canal, Mandible, Mandibular first molar, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Radiolucency, Medicine, General Dentistry, Orthodontics, Stafne bone defect, business.industry, 030206 dentistry, SBDS, Bone defect, lcsh:RK1-715, medicine.anatomical_structure, Panoramic radiography, lcsh:Dentistry, 030220 oncology & carcinogenesis, Original Article, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4c1fdfb1f0492fae29624ffdd7f44aTest
https://doi.org/10.1016/j.jds.2019.05.002Test -
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المؤلفون: Eunae You, Jieun Lee, Jangho Jeong, Seula Keum, Dong Ho Lee, Sangmyung Rhee, Mizanur Rahman, Jaegu Kim, Panseon Ko
المصدر: Animal Cells and Systems
Animal Cells and Systems, Vol 23, Iss 6, Pp 414-421 (2019)مصطلحات موضوعية: 0301 basic medicine, Programmed cell death, caspase, Caspase 8, General Biochemistry, Genetics and Molecular Biology, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, breast cancer, medicine, lcsh:QH301-705.5, Caspase, SBDS, Cisplatin, lcsh:R5-920, biology, Chemistry, apoptosis, Cancer, medicine.disease, 030104 developmental biology, lcsh:Biology (General), Apoptosis, 030220 oncology & carcinogenesis, Cancer cell, Cancer research, biology.protein, Animal Science and Zoology, Molecular & Cellular Biology, lcsh:Medicine (General), ECM stiffness, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f7fdb59e43472e33cde00a9e5d3371Test
http://europepmc.org/articles/PMC6913620Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4e0b4fcac59af6b25b81cb476046c9Test
https://doi.org/10.1172/jci125375Test -
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المؤلفون: Jean-François Emile, Didier Blaise, Ilona Okhremchuck, François Delhommeau, Christine Bellanné-Chantelot, J. Donadieu, Fares bou Mitri, Matthieu Patient, Jean Alain Martignoles, Faézeh Izadifar-Legrand, Blandine Beaupain, Jean-François Fléjou
المصدر: Pediatric Blood & Cancer. 68
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neutropenia, Ovary, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, hemic and lymphatic diseases, medicine, Humans, Registries, Esophagus, Congenital Neutropenia, Shwachman–Diamond syndrome, business.industry, Cancer, Hematology, SBDS, medicine.disease, Shwachman-Diamond Syndrome, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, Chronic neutropenia, Complication, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8483442edbce7a1b831ea564e431120bTest
https://doi.org/10.1002/pbc.29071Test