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6th one-day one-day medical diagnostic-genetic genetics
6th one-day one-day medical diagnostic-genetic genetics In date 2019-10-03 by ,آزمايشگاه تهران لب،پاتوبيولوژي،ژنتيك پزشكيآزمايشگاه ژنتيك بيمارستان كسري، آزمايشگاه پاتوبيولوژي و ژنتيك پزشكي شفا in City Tehran was held. please refer to the following link to download all the papers of conference proceedings: _PROCEEDINGS 6th one-day one-day medical diagnostic-genetic genetics
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Accepted papers in 6th one-day one-day medical diagnostic-genetic genetics
Interchromosomal effects in Robertsonian and reciprocal transloctions, inversions Carriers and Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development
The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene in two boys with autism in an Iranian family
A case report of trisomy 18 in a girl with 18 years old
چالش ها و تفاوت های تکنیکی در تشخیص دو مورد سندروم ناپایداری کروموزومی متداول آتاکسی تلانژکتیازیا و آنمی فانکونی
Duplex Sequencing/CRISPR/Cas9 Duplex Sequencing: Challenges and Solutions for Early Cancer Detection
Challenges in Interpretation of Ambiguous Karyotype Results
مشاوره ژنتیک در انجام تستهای غربالگری سلامت جنین همراه با گزارش تحلیلی از نتایج 1960 آمنیوسنتز انجام شده مبتنی بر تست های غربالگری
چالش های صدور مجوز سقط درمانی در بیماری های ژنتیکی
Bi-allelic Mutations in CHRNE Cause Autosomal-Recessive Slow-Channel Congenital Myasthenic Syndrome
Progressive Ataxia; A case report of WES application -LMNB2
CYP1B1R368H and Glaucoma Development: Functional Evidence from Drosophila
A novel missense ATRX gene mutation in one family with Alpha-thalassemia and Mental retardation-hypotonic facies syndrome
Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with an extensive and atypical pattern of brain iron deposition
Whole exome sequencing identifies genetic basis of two challenging cases with metabolic disorders
Dealing with Pseudogenes/Paralogs in NGS data
Novel candidate genes in autosomal recessive neurodevelopmental disorders: A three year cohort study
Complexities can be seen in analysis of NGS data
A rare variant in CENPJ caused microcephaly in two unrelated families with a range of different phenotypes
Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family
Whole Exome Sequencing identifies c.883-1 G> A of DNAH11 gene to be associated with Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome