Genomize

in Scientific Articles

1- Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open -22 June 2019Read more...

2-IKZF1 Deletions at Diagnose and Relapse of Childhood B-ALL

American Society of Hematology - 7 December 2017 Read more...

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

Balkan Journal of Medical Genetics -  29 October 2018  Read more...

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

Brain -  12 January 2019  Read more...

5- EFFECTIVE USE OF NEXT GENERATION SEQUENCING FOR GENETIC DIAG- NOSIS OF A PATIENT WITH A MOSAIC TSC2 VARIANT

Turkish Med. Stud. J. -  4 March 2019  Read more...

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

Balkan Med J.  -  10 May 2019  Read more...

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

Balkan Med J.   1 January 2019  Read more...

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

Springer Berlin Heidelberg   9 June 2019  Read more...

9- 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 consecutive pregnancies

Gene   20 August 2018  Read more...

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

GJ Clin Res Pediatr Endocrinol   20 February 2019  Read more...

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

The International Journal of Immunogenetics   28 May 2019  Read more...