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Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
Eur J Clin Invest. 2024 Jun;54(6):e14191. doi: 10.1111/eci.14191. Epub 2024 Mar 5.
Eur J Clin Invest. 2024.
PMID: 38440843
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Cruz-Utrilla A, Del Cerro MJ, Ochoa Parra N, Blanco JN, Arias P, Lapunzina P, Escribano-Subias P, Tenorio-Castaño J.
Gallego-Zazo N, et al. Among authors: blanco jn.
Genes (Basel). 2022 May 22;13(5):927. doi: 10.3390/genes13050927.
Genes (Basel). 2022.
PMID: 35627312
Free PMC article.
Review.
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Spontaneous remission in a child with an NPHS1-based congenital nephrotic syndrome.
Espinosa LG, Santoveña AZ, Blanco JN, Alvariño MG, Feito JB, Hijosa MM.
Espinosa LG, et al. Among authors: blanco jn.
Clin Kidney J. 2022 Mar 31;15(10):1969-1970. doi: 10.1093/ckj/sfac086. eCollection 2022 Oct.
Clin Kidney J. 2022.
PMID: 36158155
Free PMC article.
No abstract available.
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