Bildiriler

6 Eylül 2021

[PS-17] Yeni bir ABCC8 gen mutasyonu; MODY tip 12 olabilir mi?

6 Eylül 2021

SNORD116 Deletions Cause All Features of Prader-Willi Syndrome

6 Eylül 2021

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

6 Eylül 2021

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

6 Eylül 2021

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

6 Eylül 2021

Determining and Classification of Genetics Variants Associated with Juvenile Arrythmia

6 Eylül 2021

A Novel Candidate Frameshift Mutation For Leigh Syndrome

6 Eylül 2021

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

6 Eylül 2021

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

24 Şubat 2019

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

23 Şubat 2019

Our experience in BRCA-associated hereditary breast and ovarian cancer syndrome