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List of works by Pelin Ö Şimşek-Kiper

A rare cause of syndromic short stature: 3M syndrome in three families

scientific article published on 30 November 2020

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

scientific article published on 04 October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience

scientific article published on 07 December 2020

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis

scientific article published on 31 July 2018

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome

scientific article published on 13 April 2019

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

scientific article published in 2022

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