Esra Börklü

4PUBLICATIONS
28CO-AUTHORS
Neurology and neuromuscular diseasesFood properties (incl. characteristics and health benefits)Epigenetics (incl. genome methylation and epigenomics)Cancer genetics
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Publications (4)

|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
Revisiting TOP2B-related phenotypes: Three new cases and literature review.

Ece Çepni, Esra Börklü, Şahin Avcı

|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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