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Yıldız-Bölükbaşı, E. (Esra)
9  results:
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1

Mutation in protein disulfide isomerase A3 causes neurodeve..:

Medinas, D. B. (Danilo Bilches) ; Malik, S. (Sajid) ; Yıldız-Bölükbaşı, E. (Esra)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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2

Variable expressivity in a four-generation ACDMPV family wi..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
European Journal of Human Genetics.  30 (2022)  10 - p. 1182-1186 , 2022
Link: https://doi.org/10.1038/..
 
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3

Exacerbation of mild lung disorders to lethal pulmonary hyp..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1420-1425 , 2022
Link: https://doi.org/10.1002/..
 
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4

Ultra-conserved non-coding sequences within the FOXF1 enhan..:

Szafranski, Przemyslaw ; Majewski, Tadeusz ; Yıldız Bölükbaşı, Esra...
Genes & Diseases.  9 (2022)  6 - p. 1423-1426 , 2022
Link: https://doi.org/10.1016/..
 
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5

Do paternal deletions involving the FOXF1 locus on chromoso..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Gambin, Tomasz...
European Journal of Medical Genetics.  65 (2022)  6 - p. 104519 , 2022
Link: https://doi.org/10.1016/..
 
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6

High‐level gonosomal mosaicism for a pathogenic non‐coding ..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
Molecular Genetics & Genomic Medicine.  10 (2022)  11 - p. , 2022
Link: https://doi.org/10.1002/..
 
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7

Novel EDAR mutation in tooth agenesis and variable associat..:

Mumtaz, Sara ; Nalbant, Gökhan ; Yıldız Bölükbaşı, Esra...
European Journal of Medical Genetics.  63 (2020)  9 - p. 103926 , 2020
Link: https://doi.org/10.1016/..
 
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8

Homozygous deletion of MYADML2 in cranial asymmetry, reduce..:

Yıldız Bölükbaşı, Esra ; Shabbir, Rana Muhammad Kamran ; Malik, Sajid.
Journal of Human Genetics.  66 (2020)  2 - p. 171-179 , 2020
Link: https://doi.org/10.1038/..
 
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9

Progressive SCAR14 with unclear speech, developmental delay..:

Yıldız Bölükbaşı, Esra ; Afzal, Muhammad ; Mumtaz, Sara...
American Journal of Medical Genetics Part A.  173 (2017)  9 - p. 2494-2499 , 2017
Link: https://doi.org/10.1002/..
 
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