مجموعه مقالات 6th one-day one-day medical diagnostic-genetic genetics

1. A case report of trisomy 18 in a girl with 18 years old
Year: 1398Language: English
Authors: Parvaneh Keshavarz - Nadia Mirzaei - Masoumeh Khani - Sara Rafiei
Page: 1
Conference Paper
2. A novel missense ATRX gene mutation in one family with Alpha-thalassemia and Mental retardation-hypotonic facies syndrome
Year: 1398Language: English
Authors: Sara Taghizadeh - Saeed Farajzadeh Valilou - Reza Raoofian - Javad Karimzad Hagh
Page: 1
Conference Paper
3. A rare variant in CENPJ caused microcephaly in two unrelated families with a range of different phenotypes
Year: 1398Language: English
Authors: Hamid Ghaedi
Page: 1
Conference Paper
4. Bi-allelic Mutations in CHRNE Cause Autosomal-Recessive Slow-Channel Congenital Myasthenic Syndrome
Year: 1398Language: English
Authors: Ata Bushehri - Davood Zare-Abdollahi - Mir-Majid Mosallaie - Behrouz Mohseni Moghaddam
Page: 1
Conference Paper
5. CYP1B1R368H and Glaucoma Development: Functional Evidence from Drosophila
Year: 1398Language: English
Authors: Mohammad Haddadi - Mehrnaz Narooei-Nejad - Mahdiyeh Harati
Page: 1
Conference Paper
6. Challenges in Interpretation of Ambiguous Karyotype Results
Year: 1398Language: English
Authors: Farkhondeh Behjati - Atefeh Dokhanchi - Iman Begherizadeh - Akram Abdi
Page: 1
Conference Paper
7. Complexities can be seen in analysis of NGS data
Year: 1398Language: English
Authors: Mohammad Keramatipour
Page: 1
Conference Paper
8. Dealing with Pseudogenes/Paralogs in NGS data
Year: 1398Language: English
Authors: Arezou Karamzade - Mohammad Keramatipour
Page: 1
Conference Paper
9. Duplex Sequencing/CRISPR/Cas9 Duplex Sequencing: Challenges and Solutions for Early Cancer Detection
Year: 1398Language: English
Authors: Marjan Yaghmaie
Page: 1
Conference Paper
10. Interchromosomal effects in Robertsonian and reciprocal transloctions, inversions Carriers and Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development
Year: 1398Language: English
Authors: Malieha Khaleghian
Page: 1
Conference Paper
11. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with an extensive and atypical pattern of brain iron deposition
Year: 1398Language: English
Authors: Afagh Alavi - Reza Hajati-Kenarsari - Atefeh Davarzani - Mohammad Rohani
Page: 1
Conference Paper
12. Novel candidate genes in autosomal recessive neurodevelopmental disorders: A three year cohort study
Year: 1398Language: English
Authors: Farah Ashrafzadeh - Mehran Beiraghi Toosi - Barbara Vona - Reza Maroofian
Page: 2
Conference Paper
13. Progressive Ataxia; A case report of WES application -LMNB2
Year: 1398Language: English
Authors: Saeed Farajzadeh Valilou - Javad Karimzad Hagh - Arash Pooladi - Mohammad Salimi Asl
Page: 1
Conference Paper
14. Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family
Year: 1398Language: English
Authors: Saeed Farajzadeh Valilou - Mohammad Salimi Asl - Javad Karimzad Hagh
Page: 1
Conference Paper
15. The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene in two boys with autism in an Iranian family
Year: 1398Language: English
Authors: Parvaneh Keshavarz - Nadia Mirzaei - Masoumeh Khani - Sara Rafiei
Page: 1
Conference Paper
16. 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
Year: 1398Language: English
Authors: Korosh Heydari - Ahoura Nozari - Morteza Hashemzadeh
Page: 1
Conference Paper
17. Whole exome sequencing identifies genetic basis of two challenging cases with metabolic disorders
Year: 1398Language: English
Authors: Mohammad Salimi Asl - Saeed Farajzadeh Valilou - Mina Mohammadi - Hassan Heydari
Page: 1
Conference Paper
18. مشاوره ژنتیک در انجام تستهای غربالگری سلامت جنین همراه با گزارش تحلیلی از نتایج 1960 آمنیوسنتز انجام شده مبتنی بر تست های غربالگری
Year: 1398Language: Persian
Authors: سید محمد سید حسینی - رضیه السادات طباطبایی
Page: 1
Conference Paper
19. چالش ها و تفاوت های تکنیکی در تشخیص دو مورد سندروم ناپایداری کروموزومی متداول آتاکسی تلانژکتیازیا و آنمی فانکونی
Year: 1398Language: Persian
Authors: حسین مزدارانی
Page: 1
Conference Paper
20. چالش های صدور مجوز سقط درمانی در بیماری های ژنتیکی
Year: 1398Language: Persian
Authors: آسیه جعفری - رضا روفیان
Page: 1
Conference Paper

نتایج 1 تا 50 از مجموع 20

مجموعه مقالات 6th one-day one-day medical diagnostic-genetic genetics

1. A case report of trisomy 18 in a girl with 18 years old

2. A novel missense ATRX gene mutation in one family with Alpha-thalassemia and Mental retardation-hypotonic facies syndrome

3. A rare variant in CENPJ caused microcephaly in two unrelated families with a range of different phenotypes

4. Bi-allelic Mutations in CHRNE Cause Autosomal-Recessive Slow-Channel Congenital Myasthenic Syndrome

5. CYP1B1R368H and Glaucoma Development: Functional Evidence from Drosophila

6. Challenges in Interpretation of Ambiguous Karyotype Results

7. Complexities can be seen in analysis of NGS data

8. Dealing with Pseudogenes/Paralogs in NGS data

9. Duplex Sequencing/CRISPR/Cas9 Duplex Sequencing: Challenges and Solutions for Early Cancer Detection

10. Interchromosomal effects in Robertsonian and reciprocal transloctions, inversions Carriers and Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

11. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with an extensive and atypical pattern of brain iron deposition

12. Novel candidate genes in autosomal recessive neurodevelopmental disorders: A three year cohort study

13. Progressive Ataxia; A case report of WES application -LMNB2

14. Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family

15. The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene in two boys with autism in an Iranian family

16. 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

17. Whole exome sequencing identifies genetic basis of two challenging cases with metabolic disorders

18. مشاوره ژنتیک در انجام تستهای غربالگری سلامت جنین همراه با گزارش تحلیلی از نتایج 1960 آمنیوسنتز انجام شده مبتنی بر تست های غربالگری

19. چالش ها و تفاوت های تکنیکی در تشخیص دو مورد سندروم ناپایداری کروموزومی متداول آتاکسی تلانژکتیازیا و آنمی فانکونی

20. چالش های صدور مجوز سقط درمانی در بیماری های ژنتیکی