Esra Yıldız-Bölükbaşı
4PUBLICATIONS
27CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (4)
Sort by Publication Date:
|Sep 20, 2022
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski
|Jan 25, 2022
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski
|Dec 14, 2021
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.Danilo Bilches Medinas, Sajid Malik, Esra Yıldız-Bölükbaşı
Pageof 1
Frequent Collaborators
3 joint publications
Justyna A Karolak
3 joint publications
Przemyslaw Szafranski
3 joint publications
Paweł Stankiewicz
2 joint publications
Tomasz Gambin
1 joint publications
Omer Murik
1 joint publications
David A Zeevi
1 joint publications
Gheona Altarescu
1 joint publications
Nicholas Willard
1 joint publications
Steven H Abman
1 joint publications
Csaba Galambos
