Nasrinsadat Nabavizadeh
3PUBLICATIONS
40CO-AUTHORS
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Publications (3)
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|Feb 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu
|Jan 18, 2023
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul
|Jun 02, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari
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Frequent Collaborators
2 joint publications
Nathalie Escande-Beillard
2 joint publications
Emmanuel Beillard
2 joint publications
Burak Sarıbaş
2 joint publications
Bruno Reversade
1 joint publications
Umar Bin Mohamad Sahari
1 joint publications
Shahriar Nafissi
1 joint publications
Zehra Piraye Oflazer
1 joint publications
Carine Bonnard
1 joint publications
Pui-Mun Wong
1 joint publications
Charles B Majoie
