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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

EMBO Molecular Medicine
2023-02-08 | Journal article
DOI: 10.15252/emmm.202216478
Contributors: Nasrinsadat Nabavizadeh; Annkatrin Bressin; Mohammad Shboul; Ricardo Moreno Traspas; Poh Hui Chia; Carine Bonnard; Emmanuelle Szenker‐Ravi; Burak Sarıbaş; Emmanuel Beillard; Umut Altunoglu et al.
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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder

Human Molecular Genetics
2022-10-28 | Journal article
DOI: 10.1093/hmg/ddac120
Contributors: Franziska Paul; Calista Ng; Umar Bin Mohamad Sahari; Shahriar Nafissi; Yalda Nilipoor; Ali Reza Tavasoli; Carine Bonnard; Pui-Mun Wong; Nasrinsadat Nabavizadeh; Umut Altunoğlu et al.
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miR-324-3p and miR-508-5p expression levels could serve as potential diagnostic and multidrug-resistant biomarkers in childhood acute lymphoblastic leukemia

Leukemia Research
2021-10 | Journal article
DOI: 10.1016/j.leukres.2021.106643
Contributors: Atefeh Zamani; Nasrin Fattahi Dolatabadi; Massoud Houshmand; Nasrinsadat Nabavizadeh
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