6 hasil untuk "Mahboubeh Ramezanzadeh"
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Artikel Jurnal
Cell-free Fetal Nucleic Acid Identifier Markers in Maternal Circulation
From the discovery of cell-free fetal (cff)-DNA in 1997 so far, many studies have been performed on various aspects of cff-nucleic acid. It is undoubted that currently, invasive prenatal diagnosis progresses to the noninvasive test. However, there are many problems. One of the most challenging…
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Artikel Jurnal
Assessment of high resolution melt analysis feasibility for evaluation of beta-globin gene mutations as a reproducible, cost-efficient and fast alternative to the present conventional method
Background: Beta-thalassemia is the most prevalent monogenic disease throughout the world. It was the first genetic disorder nominated for nation-wide prevention programs involving population screening for heterozygotes and prenatal diagnosis (PND) in Iran. Due to the high prevalence of…
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Artikel Jurnal Teks lengkap
Risk Factors among Infertile Couples Presenting to Omid Persian Gulf Infertility Treatment Center, Bushehr, in 2021
Background: Infertility is one of the most significant reproductive health challenges and is recognized by the World Health Organization as a global concern. Given the lack of comprehensive studies in Bushehr Province, this study aimed to investigate the risk factors among couples presenting to…
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Artikel Jurnal
Psychometric of physicians' awareness, attitudes and performance questionnaire about genetic counseling and testing
Introduction: Considering the key role of physicians in providing genetic counseling services and the lack of studies in this field in Iran, it seems necessary to design a valid and reliable instrument for measuring the awareness, attitude, and performance of general and specialist physicians in…
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Artikel Jurnal
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
Abstract Background Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long bones. It is an autosomal recessive disorder caused by mutations in the XYLT1 gene that encodes xylosyltransferase-1…
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Artikel Jurnal
The Impact of Functional Promoter Variants in Interleukin-18 on Susceptibility to Rheumatoid Arthritis in Iranian Population
Background: Interleukin-18 (IL-18) is recognized for its pro-inflammatory properties and plays a central role in the progression of rheumatoid arthritis (RA). The specific single-nucleotide polymorphisms (SNPs), rs1946518 (-607C>A) and rs187238 (-137G>C), that are found in the IL-18 promoter region…