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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: barakat ts. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
Erratum to: Dynamics of gene silencing during X inactivation using allele-specific RNA-seq.
Marks H, Kerstens HH, Barakat TS, Splinter E, Dirks RA, van Mierlo G, Joshi O, Wang SY, Babak T, Albers CA, Kalkan T, Smith A, Jouneau A, de Laat W, Gribnau J, Stunnenberg HG. Marks H, et al. Among authors: barakat ts. Genome Biol. 2016 Feb 5;17:22. doi: 10.1186/s13059-016-0885-4. Genome Biol. 2016. PMID: 26850229 Free PMC article. No abstract available.
[The Servo Ventilator 900 C respirator].
Clergue F, Bakir M, Barakat T. Clergue F, et al. Agressologie. 1984 Apr;25(4):417-21. Agressologie. 1984. PMID: 6591825 French. No abstract available.
X-changing information on X inactivation.
Barakat TS, Jonkers I, Monkhorst K, Gribnau J. Barakat TS, et al. Exp Cell Res. 2010 Mar 10;316(5):679-87. doi: 10.1016/j.yexcr.2010.01.015. Epub 2010 Jan 18. Exp Cell Res. 2010. PMID: 20083102 Review.
82 results