Výsledky vyhledávání - "MESH: Adolescent"

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    Přispěvatelé: Rots, Dmitrijs Bouman, Arianne Yamada, Ayumi a další

    Zdroj: Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
    American Journal of Human Genetics, 111, 8, pp. 1605-1625
    The American journal of human genetics
    Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008

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    Zdroj: Hepatol Int
    Hepatology International, 18, 4, pp. 1214-1226

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    Zdroj: Digital.CSIC. Repositorio Institucional del CSIC
    Consejo Superior de Investigaciones Científicas (CSIC)
    New England Journal of Medicine, vol 390, iss 20

    Témata: Male, 0301 basic medicine, MESH: AIRE Protein / genetics, [SDV]Life Sciences [q-bio], T-Lymphocytes, Pilot Projects, MESH: AIRE Protein / immunology, Pediatrics, Chemokine CXCL9, MESH: Pyrimidines / therapeutic use, Mice, MESH: Interferon-gamma / genetics, Endocrinology, MESH: Pyrazoles / pharmacology, MESH: Child, MESH: Animals, MESH: Janus Kinase Inhibitors / therapeutic use, Clinical Medicine General, Child, Polyendocrinopathies, Autoimmune, Mice, Knockout, 0303 health sciences, MESH: Middle Aged, Gastroenterology General, Gastroenterology, Inflammatory Disease, AIRE Protein, Genetics General, Middle Aged, [SDV] Life Sciences [q-bio], MESH: Transcription Factors / immunology, Pediatrics General, Female, Rheumatology General, Childhood Diseases, MESH: Interferon-gamma / immunology, Adult, MESH: T-Lymphocytes / immunology, MESH: Chemokine CXCL9 / genetics, MESH: Pyrazoles / therapeutic use, Adolescent, Knockout, Thyroid Disease, MESH: Autoantibodies / immunology, T-Cells, Dermatology, MESH: Transcription Factors / genetics, Autoimmune Disease, Dermatology General, MESH: Polyendocrinopathies, Allergy/Immunology General, Allergy/Immunology, MESH: AIRE Protein / deficiency, Interferon-gamma, 03 medical and health sciences, Adolescent Medicine, Rheumatology, Autoimmune / genetics, Outpatient-Based Clinical Medicine, Nitriles, Genetics, Animals, Humans, Janus Kinase Inhibitors, Adrenal Disease, MESH: Mice, MESH: Autoantibodies / blood, MESH: Nitriles / therapeutic use, Autoantibodies, MESH: Adolescent, MESH: Humans, Animal, Inflammatory Bowel Disease, Immunity, Autoimmune / immunology, MESH: Adult, Endocrinology General, MESH: Pilot Projects, MESH: Male, Disease Models, Animal, Pyrimidines, Polyendocrinopathies, Disease Models, Autoimmune / drug therapy, Pyrazoles, MESH: Disease Models, Clinical Medicine, MESH: Female, Autoimmune, Transcription Factors

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    Zdroj: Blood, Vol. 144, no. 15, p. 1570-1580 (2024)

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    Zdroj: Brain Struct Funct
    Brain Structure and Function

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