Conference information
هشتمین سمینار کشوری مشاوره ژنتیک و نقش آن در پیشگیری از معلولیت ها8th national seminar on genetic counseling and prevention of disability
Date: 13 November 2019
Index date: 31 December 2019
Pages: 79
Papers:67
Views: 47381
Conference national idGCMED08
Authors: 184 author
8th national seminar on genetic counseling and prevention of disability papers
2. A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Year: 1398Language: EnglishPages: 15. AMP-kinase inhibitor dorsomorphin reduces the proliferation and migration behavior of colorectal cancer cells by targeting the AKT/mTOR Pathway
Year: 1398Language: EnglishAuthors: Sadaf Ghanaatgar-Kasbi - Forouzan Amerizadeh - Farzad Rahmani - Seyed Mahdi Hassanian - Majid Khanzaei - Mina MaftouhPages: 16. Application of multi-gene panel in juvenile-onset glaucoma: report of 2 cases with dominant & recessive inheritance
Year: 1398Language: EnglishPages: 17. Associated genes with early and late onset of symptoms in patients with Charcot–Marie–Tooth disease
Year: 1398Language: EnglishAuthors: Maryam Rezazadeh - Hosseinzadeh Molecular Genetics Division, GMG center, Tabriz, I - Jalal GharesouranPages: 18. Association between four novel miRNAs polymorphisms and susceptibility to idiopathic recurrent spontaneous abortion
Year: 1398Language: EnglishPages: 19. Association of A Novel Balanced Reciprocal Translocation and Recurrent Miscarriage: A Case Report
Year: 1398Language: EnglishAuthors: Seied Vahid Mohaddes Ardebili - Mahan Narjabadifam - Saba Dayem Omid - Aziz Khorrami - Seyyed Mojtaba Mohaddes ArdebiliPages: 110. Association of a genetic variant in Interleukin-10 gene with increased risk and inflammation associated with cervical cancer
Year: 1398Language: EnglishAuthors: Mina Maftouh - Malihe Hasanzadeh - Hojjatolah Zamani - Mehraneh Mehramiz - Banafsheh Hashemi - Mina MaftouhPages: 111. Association of a genetic variant in the angiopoietin-like protein 4 gene with metabolic syndrome
Year: 1398Language: EnglishAuthors: Sara Kharazmi-Khorassani - Jasmin Kharazmi-Khorassani - Zam Rastegar-Moghadam - Sara Samadi - Hamideh Ghazizadeh - Gordon A FernsPages: 112. Association of heteromorphism of chromosome 9 and recurrent abortion (ultrasound diagnosed blighted ovum)
Year: 1398Language: EnglishPages: 215. Case Report of Bardet Biedl Syndrome
Year: 1398Language: EnglishPages: 117. Comparison and comparison of telomerase expression in healthy tissue and breast cancer
Year: 1398Language: EnglishPages: 119. Cytogenetic investigation and Clinical Phenotype of patients with primary amenorrhea in Kermanshah Province, west of Iran
Year: 1398Language: EnglishPages: 120. DOCK8-related immunodeficiency syndrome (DIDS): novel deleterious mutations
Year: 1398Language: EnglishPages: 121. Deletion 22q11.2 syndrome frequency in patients with cleft palate referred to Alzahra Hospital, Isfahan, Iran
Year: 1398Language: EnglishPages: 122. Detection of a new pathogenic mutation on DMD gene associated with Duchene Muscular Dystrophy
Year: 1398Language: EnglishAuthors: Seied Vahid Mohaddes Ardebili - Mahan Narjabadifam - Saba Dayem Omid - Aziz Khorrami - Seyyed Mojtaba Mohaddes ArdebiliPages: 125. Effect of inorganic polyphosphate on microvascular endothelial permeability and its mechanism: focus on AMP kinase signaling pathway
Year: 1398Language: EnglishAuthors: Fereshteh Asgharzadeh - Farnaz Barneh - Atena Soleimani - Farzad Rahmani - Amir Avan - Gordon A FernsPages: 229. Genetic Approach to Recurrent Pregnancy Loss
Year: 1398Language: EnglishAuthors: Arash Pooladi - Javad Karimzad Hagh - Mohammad Salimi Asl - Farkhondeh Behjati - Yousef ShafeghatiPages: 134. LAMA1 gene variant associated with intellectual disability and sever myopia - a case report
Year: 1398Language: EnglishPages: 139. Rare P376L variant in the SR-BI gene associates with HDL dysfunction and risk of cardiovascular disease
Year: 1398Language: EnglishAuthors: Amir Avan - Sara Samadi - Zahra Farjami - Zeinab Sadat Hosseini - Gordon A Ferns - Amir Hooshang MohammadpourPages: 142. SPINK5 and Netherton syndrome: novel deleterious mutation
Year: 1398Language: EnglishPages: 147. The role of genetic counseling in the prevention of hearing loss in Iranian patients
Year: 1398Language: EnglishPages: 148. The study of KCNE1 gene mutations in Iranian LQTS patients
Year: 1398Language: EnglishAuthors: Rambod Norouzi - Radin Norouzi - Tahereh Foroutan - Nejat Mahdieh - Mohammad Rafi Khorgami - Bahareh RabbaniPages: 149. Two variants in exon and intron 9 of LDLR gene in Iranian familial hypercholesterolemia patients
Year: 1398Language: EnglishPages: 250. Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening
Year: 1398Language: EnglishAuthors: Nasrin Alipour Olyaei - Mohammad Miryounesi - Masoumeh Rostami - Soraya Bahari - Vahid Reza YasaeePages: 2
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