در این بخش سعی شده است تا پژوهش های انجام شده در این مرکز که در قالب مقاله,پوستر و … ارائه شده است گرد آوری شود.تا دانش پژوهان محترم بهره مند شوند.
Molecular detection of BRCA1 and BRCA 2 mutations in Iran
Beta-thalassemia minor due to HBB deletions with increased HbA2 and HbF
Results of molecular PGD in a private medical genetic lab report of 4 years results
Uniparental disomy of chromosome 12 which leads to a phenylketonuria case
وقتی تست ژنتیک ناشنوایی بر اساس نسل جدید تعیین توالی دچار اشتباه می شود
Coexistence of SMN1 deletion and duplication in unrelated cases
Frequency and heterozygosity of 10 STR markers linked to the HLA-gene-cluster for
Genetic screening and early cancer prevention in familiar cancers Authors
Molecular diagnosis of Factor VII gene in 5 Iranian families
NEW HUMAN IDENTIFICATION KIT WITH 30 MARKERS USING SHORT TANDEM REPEAT (STR) ANALYSIS
Variable Phenotypes Associated with Mutations in PAH Gene
Detection of A New Mutation in TREX1 Gene Associated with Aicardi-Goutieres Syndrome
Validation of the Rizfiler PCR Amplification Kit-DNA Typing for Degraded Specimens
Detection of the Lepore and Asian-Indian beta-globin gene deletions with duplex-PCR
A novel mutation in the LYST gene caused Chediak Higashi Syndrome in an Iranian family
Autozygosity mapping using new panel of 19 STR markers linked to Methylmalonic Acidemia associated genes
Developing a novel panel for the genetic screening of autosomal recessive SMA associated genes
Different strategies of genetic investigation of Von Willebrand disease
Discrepancy in the pathogenicity of a previously reported mutation in Maple Syrup Urine Disease
Evidence of germline mosaicism in Hemophilia A-implication of genetic counseling
Frequency & heterozygosity assessment of STR markers linked to 𝛽-globin gene applicable in PND &PGD
Gonadal mosaicism in grandfather leading to the transmission of severe hemophilia A in the grandson
Homozygosity mapping in an ichthyosis Family-Reporting a novel mutation
Hurler syndrome study in Iran with reporting two novel mutations
Identification of a novel mutation in Mitochondrial DNA depletion syndrome type 5 by Whole Exome Sequencing
Identification of a novel mutation in the RARS gene revealed by whole exome sequencing
Molecular genetic study of Factor V deficiency in two Iranian families
Molecular PGD for finding HLA match embryo for stem cell therapy in Fanconi anemia
Mutation spectrum of Mocopolysaccharidosis type III in Iranian patients
Novel splice site mutations in Iranian Phenylketonuria patients
PGD to select HLA matched embryo for stem cell therapy for beta thalassemia
PGD to select HLA matched embryo for stem cell therapy in epidermolysis bullosa dystrophica
PGD to select unaffected embryo for hemophilia A carrier woman
Recognizing 5 novel mutations in Iranian families affected by Factor VII deficiency
Reporting a novel mutation causing elongated protein in Hemophilia A in Iran
Reporting a variant Indel in the alpha thalassemia patient in Iran
Reporting experience on more than 500 blastomeres
Reporting Incidental finding of hypertrophic Cardiomyopathy in a patient with RP
Study the polymorphism of lcr1 gene in Leishmania infantum
The significant role of STR markers in complex diagnosis of PND or PGD of β thalassemia
Von willebrand disease type 3-Reporting novel mutations
