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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2011 1
2012 1
2014 2
2015 2
2016 5
2017 2
2019 2
2020 5
2021 5
2022 5
2023 2
2024 0

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27 results

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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Secondary antibody deficiencies.
Dhalla F, Misbah SA. Dhalla F, et al. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):505-13. doi: 10.1097/ACI.0000000000000215. Curr Opin Allergy Clin Immunol. 2015. PMID: 26406183 Review.
FOXN1 deficient nude severe combined immunodeficiency.
Rota IA, Dhalla F. Rota IA, et al. Among authors: dhalla f. Orphanet J Rare Dis. 2017 Jan 11;12(1):6. doi: 10.1186/s13023-016-0557-1. Orphanet J Rare Dis. 2017. PMID: 28077132 Free PMC article. Review.
Combined multidimensional single-cell protein and RNA profiling dissects the cellular and functional heterogeneity of thymic epithelial cells.
Klein F, Veiga-Villauriz C, Börsch A, Maio S, Palmer S, Dhalla F, Handel AE, Zuklys S, Calvo-Asensio I, Musette L, Deadman ME, White AJ, Lucas B, Anderson G, Holländer GA. Klein F, et al. Among authors: dhalla f. Nat Commun. 2023 Jul 10;14(1):4071. doi: 10.1038/s41467-023-39722-9. Nat Commun. 2023. PMID: 37429879 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: dhalla f. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Secondary immunodeficiency in lymphoproliferative malignancies.
Friman V, Winqvist O, Blimark C, Langerbeins P, Chapel H, Dhalla F. Friman V, et al. Among authors: dhalla f. Hematol Oncol. 2016 Sep;34(3):121-32. doi: 10.1002/hon.2323. Epub 2016 Jul 12. Hematol Oncol. 2016. PMID: 27402426 Review.
Inborn errors of thymic stromal cell development and function.
Kreins AY, Maio S, Dhalla F. Kreins AY, et al. Among authors: dhalla f. Semin Immunopathol. 2021 Feb;43(1):85-100. doi: 10.1007/s00281-020-00826-9. Epub 2020 Nov 30. Semin Immunopathol. 2021. PMID: 33257998 Free PMC article. Review.
A man with thrombocytopenia.
Dhalla F, Gulati P, Sreerangaiah D, Abraham SM. Dhalla F, et al. BMJ. 2012 Feb 16;344:e826. doi: 10.1136/bmj.e826. BMJ. 2012. PMID: 22344305 No abstract available.
27 results