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Conferences
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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
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