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Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Dilşad Turkdogan, Emma Matthews, Sunay Usluer, Aslı Gundogdu, Kayihan Uluc et. al.

Epilepsia Open - 22 June 2019

IKZF1 Deletions at Diagnose and Relapse of Childhood B-ALL

Yücel Erbilgin, Sinem Firtina, Ozden Hatirnaz, Tiraje Celkan, Zeynep Karakas et al.

American Society of Hematology - 7 December 2017

Association of E-selectin S128R polymorphism with hereditary breast carcinoma susceptibility in Turkish patients without BRCA1/2 germline mutations

K. Yararbas and P.B. Atalay

Balkan Journal of Medical Genetics - 29 October 2018

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker et al.

Balkan Journal of Medical Genetics - Brain - 12 January 2019

Effective Use of Next Generation Sequencing for Genetic Diagnosis of a Patient with a Mosaic TSC2 Variant

Hilal Sena Çiftçibaşı, Elçin Gülbal, Ayşenur Erdoğan, Ayşenur Demirci, Selma Demir

Turkish Med. Stud. J. - 4 March 2019

The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016

Melih Hangül, Sevgi Pekcan, Mehmet Köse, Deniz Acıcan, Tuba Esra Şahlar et al.

Balkan Medical Journal - 10 May 2019

Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Taha Reşid Özdemir, Murat Alan, Muzaffer Sancı and Altuğ Koç

Balkan Medical Journal - 1 January 2019

A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey

Sinem Firtina, Yuk Yin, Ozden Hatirnaz, Serdar Nepesov, Osman Yesilbas et al.

Springer Berlin Heidelberg - 9 June 2019

Comparison of two groups for the apolipoprotein E polymorphisms by using next generation sequencing: The first group with three consecutive abortions and the second group with at most one abortion in three..

Evren Gumus

Gene - 20 August 2018

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin and Bülent Hacıhamdioğlu

GJ Clin Res Pediatr Endocrinol - 20 February 2019

Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

Berk Ozyilmaz, Ozgur Kirbiyik, Altug Koc, Taha R. Ozdemir, Ozge Kaya Ozer et al.

The International Journal of Immunogenetics - 28 May 2019

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