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List of works by Erhan Pariltay

A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea

scientific article published on 27 May 2019

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

scientific article

An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

scientific article published on 14 October 2018

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

scientific article published on 23 January 2019

Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis

scientific article published on 01 January 2012

Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies

scientific article published in January 2013

Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies

scientific article published in January 2014

Profile Templates to Use during Surgery in Precision Rhinoplasty

scientific article published on 13 February 2019

Seckel syndrome with Morgagni hernia.

scientific article published on July 2007

The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.

scientific article published on April 2009

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