Conferences

6 September 2021

[PS-17] A new ABCC8 gene mutation; Could it be MODY type 12?

6 September 2021

A fetus With Inherited 22q11.2 Deletion And Importance Of Genetic Counseling

6 September 2021

SNORD116 Deletions Cause All Features of Prader-Willi Syndrome

6 September 2021

A Novel Hemizygous Frameshift OPHN1 Gene Mutation Associated with Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance

6 September 2021

Frequency of BRCA1/2 and other gene variations in patients with breast cancer in our center

6 September 2021

Determining and Classification of Genetics Variants Associated with Juvenile Arrythmia

6 September 2021

A novel homozygous frameshift SPTBN2 gene mutation associated with Spinocerebellar Ataxia-14

6 September 2021

A Novel Candidate Frameshift Mutation For Leigh Syndrome

6 September 2021

ELOVL4 mutation in a case with ichthyosis, spastic quadriplegia, and mental retardation syndrome (ISQMR)

20 April 2019

The role of NGS method in the diagnosis of periodic fever syndrome