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1دورية أكاديمية
المؤلفون: Tadafumi Yokoyama, Ayumi Yoshizaki, Karen L Simon, Martha R Kirby, Stacie M Anderson, Fabio Candotti
المصدر: PLoS ONE, Vol 10, Iss 10, p e0139729 (2015)
وصف الملف: electronic resource
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المؤلفون: Marjan Huizing, Melanie M. Bryan, Robert B. Hufnagel, Nathanial J. Tolman, Vladislav V. Speransky, Bernadette R. Gochuico, May Christine V. Malicdan, Karen L. Simon, Brian P. Brooks, James C. Mullikin, William A. Gahl
المصدر: Molecular Genetics and Metabolism. 120:378-383
مصطلحات موضوعية: Male, 0301 basic medicine, Ocular albinism, Pathology, medicine.medical_specialty, Biogenesis of lysosome-related organelles complex 1, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Article, 03 medical and health sciences, Endocrinology, Genetics, medicine, Humans, Exome, Child, Molecular Biology, Exome sequencing, Platelet storage pool deficiency, Dysbindin, Sequence Analysis, DNA, medicine.disease, Oculocutaneous albinism, eye diseases, 030104 developmental biology, Codon, Nonsense, Hermanski-Pudlak Syndrome, Dystrophin-Associated Proteins, Hermansky–Pudlak syndrome
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المؤلفون: David R. Adams, Carlos Ferreira, Meral Gunay-Aygun, Shirley M. Abraham, Karen L. Simon, Thomas C. Markello, May Christine V. Malicdan, William A. Gahl, Dong Chen
المصدر: Molecular Genetics and Metabolism. 120:288-294
مصطلحات موضوعية: Male, Platelet Storage Pool Deficiency, 0301 basic medicine, Adolescent, Sequence analysis, Endocrinology, Diabetes and Metabolism, Repressor, Alpha (ethology), Plasma protein binding, Biology, medicine.disease_cause, Biochemistry, Article, 03 medical and health sciences, Endocrinology, Proto-Oncogene Proteins, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Gene, Zinc finger, Mutation, Platelet storage pool deficiency, Zinc Fingers, Sequence Analysis, DNA, medicine.disease, Pedigree, Repressor Proteins, 030104 developmental biology, Protein Binding
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المؤلفون: Vladislav V. Speransky, Jay N. Lozier, Karen L. Simon, Bernadette R. Gochuico, Wadih M. Zein, Khanh Nghiem, Kevin J. O'Brien, Anne T. Neff, Andrew R. Cullinane, Brigitte Osorio, Lisa R. Young, May Christine V. Malicdan, James C. Mullikin, William A. Gahl
المصدر: Molecular Genetics and Metabolism. 119:284-287
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Hemophilia B, Biochemistry, Gastroenterology, Article, 03 medical and health sciences, Endocrinology, Internal medicine, Genetics, Humans, Medicine, Exome, Desmopressin, Molecular Biology, business.industry, Intracellular Signaling Peptides and Proteins, Interstitial lung disease, medicine.disease, Oculocutaneous albinism, Phenotype, 030104 developmental biology, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Hemostasis, Mutation, Etiology, Female, Fresh frozen plasma, Hermansky–Pudlak syndrome, business, medicine.drug
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المؤلفون: Kevin Bishop, Axel Schambach, Giancarlo la Marca, Martha Kirby, Thorsten M. Schlaeger, MaryPat Jones, Fabio Candotti, Luigi D. Notarangelo, Yuval Itan, Waleed Al-Herz, Settara C. Chandrasekharappa, Kerstin Felgentreff, Kerry Dobbs, Raman Sood, Alex Devine, Elisa Giocaliere, Stephen Wincovitch, Jayashree Jagadeesh, Karen L. Simon, Alberto Rissone, Katja G. Weinacht
المصدر: The Journal of Experimental Medicine
Journal of Experimental Medicine, vol. 212, no. 8, pp. 1185-1202مصطلحات موضوعية: Pluripotent Stem Cells, Cellular differentiation, Immunology, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Adenine nucleotide, Immunodeficiences, medicine, Immunology and Allergy, Animals, Reticular dysgenesis, Progenitor cell, Induced pluripotent stem cell, Zebrafish, 030304 developmental biology, 0303 health sciences, Adenylate Kinase, Cell Biology, Leukopenia, medicine.disease, biology.organism_classification, Hematopoietic Stem Cells, Molecular biology, 3. Good health, Cell biology, Haematopoiesis, Oxidative Stress, Severe Combined Immunodeficiency, Stem cell, 030215 immunology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1845629b2c7b7aeb3e2bdca2ae83fc71
http://europepmc.org/articles/PMC4516804 -
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المؤلفون: Charles J. Billington, Roxanne Fischer, Ann C.M. Smith, William A. Gahl, Thierry Vilboux, Nisc Comparative Sequencing Program, Carla Ciccone, Andrea L. Gropman, James C. Mullikin, Seth I. Berger, Karen L. Simon, Wendy J. Introne, May Christine V. Malicdan, Marjan Huizing, Jan Blancato
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Missense mutation, Animals, Guanine Nucleotide Exchange Factors, Humans, Exome, Amino Acid Sequence, Allele, Gene, Genetics (clinical), Exome sequencing, Sequence Homology, Amino Acid, Tumor Suppressor Proteins, Nuclear Proteins, medicine.disease, Phenotype, Human genetics, DNA-Binding Proteins, 030104 developmental biology, Child, Preschool, Trans-Activators, Female, Smith-Magenis Syndrome, 030217 neurology & neurosurgery, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4742c0929320a0d4f93826681047aa6
https://europepmc.org/articles/PMC5848494/ -
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المؤلفون: Divya Punwani, Amalia Dutra, Karen L. Simon, Youngnim Choi, Jenny Y. Zhang, Martin S. Naradikian, Evgenia Pak, Diana Gonzalez-Espinosa, Chang-Hwa Song, David M. Bodine, Jennifer M. Puck
المصدر: The Journal of Immunology. 189:1253-1264
مصطلحات موضوعية: Zinc finger, T cell, Lymphocyte, Cellular differentiation, Immunology, Biology, Molecular biology, medicine.anatomical_structure, medicine, Immunology and Allergy, Cytotoxic T cell, Stem cell, B cell, Interleukin 3
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d6505f61b3625cf3c2328722d267c510
https://doi.org/10.4049/jimmunol.1200623 -
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المؤلفون: Laurent Abel, Corinne Demerens-de Chappedelaine, James C. Mullikin, Fabio Candotti, Alina Ferster, Vincent Michel, Andrea Ditadi, Capucine Picard, Christine Petit, Estelle Morillon, NM Wulffraat, Marina Cavazzana-Calvo, Céline Besse, Emmanuelle Six, Lenora M. Noroski, Karen L. Simon-Stoos, Chantal Lagresle-Peyrou, Alain Fischer, Manuel Abecasis, Frédéric Rieux-Laucat, Françoise Valensi, Fabien Calvo
المصدر: Nature Genetics. 41:106-111
مصطلحات موضوعية: Male, medicine.medical_specialty, Myeloid, Neutrophils, Hearing Loss, Sensorineural, Hematopoietic System, Cellular differentiation, Immunology, Adenylate kinase, Biology, Biochemistry, Gene Expression Regulation, Enzymologic, Article, Cell Line, Mice, Neutrophil differentiation, Internal medicine, Genetics, medicine, Animals, Humans, Reticular dysgenesis, Severe combined immunodeficiency, Adenylate Kinase, Infant, Newborn, Cell Differentiation, Cell Biology, Hematology, medicine.disease, Pedigree, AK2, Isoenzymes, Haematopoiesis, Protein Transport, medicine.anatomical_structure, Endocrinology, Ear, Inner, Mutation, Cancer research, Sensorineural hearing loss, Female, Severe Combined Immunodeficiency, Bone marrow
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المؤلفون: Ayumi Yoshizaki, Martha Kirby, Tadafumi Yokoyama, Fabio Candotti, Stacie M. Anderson, Karen L. Simon
المصدر: Plos One, vol. 10, no. 10, pp. e0139729
PLoS ONE, Vol 10, Iss 10, p e0139729 (2015)
PLoS ONEمصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, Aging, Wiskott–Aldrich syndrome, Regulatory B cells, Antigens, CD19, lcsh:Medicine, Enzyme-Linked Immunosorbent Assay, Biology, CD5 Antigens, medicine.disease_cause, CD19, Autoimmunity, Proinflammatory cytokine, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, lcsh:Science, Gene knockout, 030304 developmental biology, Mice, Knockout, B-Lymphocytes, Regulatory, 0303 health sciences, Multidisciplinary, lcsh:R, medicine.disease, Coculture Techniques, Interleukin-10, Wiskott-Aldrich Syndrome, 3. Good health, Interleukin 10, Knockout mouse, Immunology, biology.protein, Cytokines, Antigens, CD19/metabolism, Antigens, CD1d/metabolism, Antigens, CD5/metabolism, B-Lymphocytes, Regulatory/cytology, B-Lymphocytes, Regulatory/immunology, CD4-Positive T-Lymphocytes/cytology, CD4-Positive T-Lymphocytes/immunology, Cytokines/metabolism, Interleukin-10/analysis, Wiskott-Aldrich Syndrome/metabolism, Wiskott-Aldrich Syndrome/pathology, lcsh:Q, Antigens, CD1d, Research Article, 030215 immunology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f42af01d0e94c1507375de942da127
https://serval.unil.ch/resource/serval:BIB_E2770578213B.P001/REF.pdf -
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المؤلفون: Adrianna Herrera, Fabio Candotti, Makoto Otsu, Nancy E. Seidel, Guillermo J. Avilés Mendoza, David M. Bodine, Stacie M. Anderson, Karen L. Simon-Stoos, Harry L. Malech, Shelley Hoogstraten-Miller, Jennifer M. Puck
المصدر: Molecular Therapy. 3(4):565-573
مصطلحات موضوعية: Male, DNA, Complementary, Time Factors, X Chromosome, Genetic Linkage, Lymphocyte, T-Lymphocytes, Genetic Vectors, Mice, SCID, Biology, Viral vector, Mice, Transduction, Genetic, Drug Discovery, medicine, Genetics, Animals, Humans, IL-2 receptor, Lymphopoiesis, X-linked severe combined immunodeficiency, Lymphocytes, RNA, Messenger, Promoter Regions, Genetic, Molecular Biology, Pharmacology, Severe combined immunodeficiency, B-Lymphocytes, Models, Genetic, Receptors, Interleukin-2, T lymphocyte, 3T3 Cells, Genetic Therapy, medicine.disease, Blotting, Northern, Flow Cytometry, Hematopoietic Stem Cells, Virology, Mice, Inbred C57BL, Blotting, Southern, Disease Models, Animal, medicine.anatomical_structure, Retroviridae, Mutation, Molecular Medicine, Female, Severe Combined Immunodeficiency, Stem cell
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