Burak Sarıbaş

2PUBLICATIONS
27CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (2)

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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

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Frequent Collaborators

2 joint publications

Nasrinsadat Nabavizadeh

2 joint publications

Emmanuel Beillard

2 joint publications

Nathalie Escande-Beillard

1 joint publications

Annkatrin Bressin

1 joint publications

Mohammad Shboul

1 joint publications

Ricardo Moreno Traspas

1 joint publications

Zohreh Hojati

1 joint publications

Andreas Mayer

1 joint publications

Bruno Reversade

1 joint publications

Hilal Pırıl Saraçoğlu

Frequent Collaborators

2 joint publications

Nasrinsadat Nabavizadeh

2 joint publications

Emmanuel Beillard

2 joint publications

Nathalie Escande-Beillard

1 joint publications

Annkatrin Bressin

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