The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report...

por Gumus, Evren
Publicado 2018

A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay

por Gumus, Evren
Publicado 2020

Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report

por GUMUS, Evren
Publicado 2019

A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

por Wang, Ying, Gumus, Evren, Hekimi, Siegfried
Publicado 2022

The first Turkish family with Rotor syndrome diagnosed at the molecular level

por Gümüş, Evren, Karaca, Meryem, Deveci, Uğur, Jirsa, Milan
Publicado 2020

An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

por Ahn, Lucie Y., Coatti, Giuliana C., Liu, Jingyi, Gumus, Evren, Schaffer, Ashleigh E., Miranda, Helen C.
Publicado 2020

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

por Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe
Publicado 2022