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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: chia ph. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Responsiveness of one-carbon metabolites to a high-protein diet in older men: Results from a 10-wk randomized controlled trial.
Gillies NA, Milan AM, Chia PHP, Sharma P, Mitchell SM, Zeng N, Ramzan F, D'Souza RF, Mitchell CJ, Knowles SO, Andraos S, Sjödin A, Wagner KH, Roy NC, Cameron-Smith D. Gillies NA, et al. Among authors: chia php. Nutrition. 2021 Sep;89:111231. doi: 10.1016/j.nut.2021.111231. Epub 2021 Mar 6. Nutrition. 2021. PMID: 33930787 Clinical Trial.
15 results