Nathalie Escande-Beillard
8PUBLICATIONS
58CO-AUTHORS
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Publications (8)
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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
|Apr 17, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh
|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
|Oct 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Lauren G Mascibroda, Mohammad Shboul, Nathan D Elrod
|Oct 03, 2022
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism.Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko
|Nov 09, 2021
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.Umut Altunoglu, Esra Börklü, Anju Shukla
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Frequent Collaborators
6 joint publications
Bruno Reversade
5 joint publications
Hϋlya Kayserili
2 joint publications
Karim Harhouri
2 joint publications
Nihal Al Menabawy
2 joint publications
Davor Lessel
2 joint publications
Jean-François Deleuze
2 joint publications
Agnes Rötig
2 joint publications
Antoine Muchir
2 joint publications
Song-Hua Lee
2 joint publications
Philippe Manivet
