Ersan Kalay
Trabzon, Turkey
Last Updated: 09/26/2026
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Found 10 publications
A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.
Journal: Human molecular genetics
Published: March 29, 2025
Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.
Journal: The journal of gene medicine
Published: November 11, 2020
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
Journal: American journal of medical genetics. Part A
Published: October 27, 2020
RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells.
Journal: Cell biology international
Published: April 07, 2019
HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study.
Journal: Acta dermatovenerologica Croatica : ADC
Published: December 19, 2017
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
Journal: European journal of human genetics : EJHG
Published: July 29, 2016
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Journal: The Turkish journal of pediatrics
Published: May 18, 2016
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Journal: Journal of the neurological sciences
Published: October 27, 2015
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Journal: The British journal of ophthalmology
Published: February 27, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026