Esra Yıldız-Bölükbaşı
3PUBLICATIONS
22CO-AUTHORS
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Publications (3)
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|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
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Frequent Collaborators
2 joint publications
Justyna A Karolak
2 joint publications
Przemyslaw Szafranski
2 joint publications
Tomasz Gambin
2 joint publications
Paweł Stankiewicz
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
