المؤلفون: Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100267- (2024)

مصطلحات موضوعية: Severe combined immunodeficiency, thymus, FOXN1, T-cell receptor excision circles, newborn screening, whole exome sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829324000638; https://doaj.org/toc/2772-8293

URL الوصول: https://doaj.org/article/a56639754b74444aade0d15c9a346406

المؤلفون: Balducci, Estelle^{Aff1, Aff2}, Steimlé, Thomas^{Aff1, Aff2, Aff3}, Smith, Charlotte^{Aff1, Aff2}, Villarese, Patrick^{Aff1, Aff2}, Feroul, Mélanie^{Aff1, Aff2}, Payet-Bornet, Dominique, Kaltenbach, Sophie^{Aff1, Aff2}, Couronné, Lucile^{Aff1, Aff2}, Lhermitte, Ludovic^{Aff1, Aff2}, Touzart, Aurore^{Aff1, Aff2}, Dourthe, Marie-Emilie^{Aff1, Aff2}, Simonin, Mathieu^{Aff1, Aff2}, Baruchel, André^{Aff5, Aff6}, Dombret, Hervé, Ifrah, Norbert, Boissel, Nicolas, Nadel, Bertrand, Macintyre, Elizabeth^{Aff1, Aff2}, Cieslak, Agata^{Aff1, Aff2, IDs1294302301794y_cor19}, Asnafi, Vahid^{Aff1, Aff2, IDs1294302301794y_cor20}

المصدر: Molecular Cancer. 22(1)

المؤلفون: Estelle Balducci, Thomas Steimlé, Charlotte Smith, Patrick Villarese, Mélanie Feroul, Dominique Payet-Bornet, Sophie Kaltenbach, Lucile Couronné, Ludovic Lhermitte, Aurore Touzart, Marie-Emilie Dourthe, Mathieu Simonin, André Baruchel, Hervé Dombret, Norbert Ifrah, Nicolas Boissel, Bertrand Nadel, Elizabeth Macintyre, Agata Cieslak, Vahid Asnafi

المصدر: Molecular Cancer, Vol 22, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: T-cell receptor excision circles (TREC), Oncogenesis, Cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1476-4598

URL الوصول: https://doaj.org/article/e3d5dfb856104d18a107a2dec2e6260c

المؤلفون: Speckmann, Carsten^{Aff1, Aff2, IDs10875023014506_cor1}, Nennstiel, Uta, Hönig, Manfred, Albert, Michael H., Ghosh, Sujal, Schuetz, Catharina, Brockow, Inken, Hörster, Friederike, Niehues, Tim, Ehl, Stephan, Wahn, Volker, Borte, Stephan, Lehmberg, Kai, Baumann, Ulrich, Beier, Rita, Krüger, Renate, Bakhtiar, Shahrzad, Kuehl, Joern-Sven, Klemann, Christian, Kontny, Udo, Holzer, Ursula, Meinhardt, Andrea, Morbach, Henner, Naumann-Bartsch, Nora, Rothoeft, Tobias, Kreins, Alexandra Y., Davies, E. Graham, Schneider, Dominik T., Bernuth, Horst v.^{Aff10, Aff24, Aff25}, Klingebiel, Thomas, Hoffmann, Georg F., Schulz, Ansgar, Hauck, Fabian^{Aff26, IDs10875023014506_cor33}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. :1-14

المؤلفون: Makukh, H. V.^{Aff1, Aff3, IDS009545272301005X_cor1}, Boyarchuk, O. R., Kravets, V. S., Yarema, N. M., Shimanska, I. E., Kinash, M. I., Tyrkus, M. Ya.^{Aff1, Aff3}, Shulhai, O. M.

المصدر: Cytology and Genetics. 57(1):12-18

المؤلفون: Hauck, F., Albert, M. H., Ghosh, S., Hönig, M., Nennstiel, U., Schütz, C., Gramer, G., Schulz, A., Speckmann, C.^{Aff8, IDs00112022014267_cor9}

المصدر: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 170(4):328-334

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المؤلفون: Bosticardo, Marita, Yamazaki, Yasuhiro, Cowan, Jennifer, Giardino, Giuliana, Corsino, Cristina, Scalia, Giulia, Prencipe, Rosaria, Ruffner, Melanie, Hill, David A, Sakovich, Inga, Yemialyanava, Irma, Tam, Jonathan S, Padem, Nurcicek, Elder, Melissa E, Sleasman, John W, Perez, Elena, Niebur, Hana, Seroogy, Christine M, Sharapova, Svetlana, Gebbia, Jennifer, Kleiner, Gary Ira, Peake, Jane, Abbott, Jordan K, Gelfand, Erwin W, Crestani, Elena, Biggs, Catherine, Butte, Manish J, Hartog, Nicholas, Hayward, Anthony, Chen, Karin, Heimall, Jennifer, Seeborg, Filiz, Bartnikas, Lisa M, Cooper, Megan A, Pignata, Claudio, Bhandoola, Avinash, Notarangelo, Luigi D

المصدر: American Journal of Human Genetics. 105(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Rare Diseases, Biotechnology, Genetics, Prevention, Vaccine Related, Biodefense, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Animals, Child, Preschool, Female, Forkhead Transcription Factors, Heterozygote, Humans, Infant, Infant, Newborn, Lymphopenia, Male, Mice, Mice, SCID, Middle Aged, T-Lymphocytes, Thymus Gland, Young Adult, FOXN1, SCID, T cell receptor excision circles, T lymphocytes, newborn screening, thymopoiesis, thymus, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0nq989jj

المؤلفون: Alejandra Escobar Vasco, Larisa Broglie, Julie-An Talano, John Routes, James Verbsky, Allison Remiker

المصدر: Frontiers in Pediatrics, Vol 10 (2023)

مصطلحات موضوعية: GATA2, T cell receptor excision circles, severe combined immunodeficiency, hematopoietic stem cell transplant, inborn errors of immunity, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1031106/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/75afcd0813584e0caafc41601c8645fc