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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5.
Nat Commun. 2024.
PMID: 38413582
Free PMC article.
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: saribas b.
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.
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Aesthetic and Functional Results of Lateral Crural Repositioning.
Ilhan AE, Saribas B, Caypinar B.
Ilhan AE, et al. Among authors: saribas b.
JAMA Facial Plast Surg. 2015 Jul-Aug;17(4):286-92. doi: 10.1001/jamafacial.2015.0590.
JAMA Facial Plast Surg. 2015.
PMID: 26086322
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