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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Vissers LE, et al. Among authors: justino a. Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939586 Free PMC article.
Clinical Application of Next-Generation Sequencing of Plasma Cell-Free DNA for Genotyping Untreated Advanced Non-Small Cell Lung Cancer.
Fernandes MGO, Cruz-Martins N, Souto Moura C, Guimarães S, Pereira Reis J, Justino A, Pina MJ, Magalhães A, Queiroga H, Machado JC, Hespanhol V, Costa JL. Fernandes MGO, et al. Among authors: justino a. Cancers (Basel). 2021 May 30;13(11):2707. doi: 10.3390/cancers13112707. Cancers (Basel). 2021. PMID: 34070940 Free PMC article.
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.
Fernandes MGO, Jacob M, Martins N, Moura CS, Guimarães S, Reis JP, Justino A, Pina MJ, Cirnes L, Sousa C, Pinto J, Marques JA, Machado JC, Hespanhol V, Costa JL. Fernandes MGO, et al. Among authors: justino a. Cancers (Basel). 2019 Aug 22;11(9):1229. doi: 10.3390/cancers11091229. Cancers (Basel). 2019. PMID: 31443496 Free PMC article.
67 results