Aslıhan Tolun

11PUBLICATIONS
25CO-AUTHORS
NeonatologyDevelopmental genetics (incl. sex determination)Anthropological geneticsNonlinear optics and spectroscopyGene mapping
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Publications (11)

|Jun 08, 2022
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Mine Koprulu, Muhammad Naeem, Gökhan Nalbant

|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

|Sep 27, 2021
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Sajid Malik, Gökhan Nalbant, Moqadsa Noreen

|Mar 12, 2021
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.

Mine Koprulu, Aneeta Kumare, Anisa Bibi

|Aug 12, 2020
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.

Esra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir, Sajid Malik

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