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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 4 |
2024 | 1 |
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Page 1
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9.
Clin Immunol. 2023.
PMID: 37689091
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.
Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0.
Genome Med. 2023.
PMID: 37946251
Free PMC article.
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Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Speckmann C, Nennstiel U, Hönig M, Albert MH, Ghosh S, Schuetz C, Brockow I, Hörster F, Niehues T, Ehl S, Wahn V, Borte S, Lehmberg K, Baumann U, Beier R, Krüger R, Bakhtiar S, Kuehl JS, Klemann C, Kontny U, Holzer U, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Kreins AY, Davies EG, Schneider DT, Bernuth HV, Klingebiel T, Hoffmann GF, Schulz A, Hauck F.
Speckmann C, et al.
J Clin Immunol. 2023 Jul;43(5):965-978. doi: 10.1007/s10875-023-01450-6. Epub 2023 Feb 27.
J Clin Immunol. 2023.
PMID: 36843153
Free PMC article.
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First Use of Thymus Transplantation in PAX1 Deficiency.
Kreins AY, Worth A, Ghosh S, Mohammed RW, Davies EG.
Kreins AY, et al.
J Clin Immunol. 2023 Aug;43(6):1127-1130. doi: 10.1007/s10875-023-01478-8. Epub 2023 Apr 15.
J Clin Immunol. 2023.
PMID: 37060484
No abstract available.
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
Howley E, Soomann M, Kreins AY.
Howley E, et al.
J Clin Immunol. 2024 Mar 8;44(3):79. doi: 10.1007/s10875-024-01678-w.
J Clin Immunol. 2024.
PMID: 38457046
Free PMC article.
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